Evolutionary theories are critical for understanding cancer development at the level of species as well as at the level of cells and tissues, and for developing effective therapies.
The epithelial to-mesenchymal transition (EMT) in cancer-metastasisArka Laha
This slide is about role of EMT in cancer metastasis, how EMT plays a critical role in metastatic tumor development and in the last part of the slide we discuss about the role of EMT in embryonic development purpose.
Slide no 1 : Describes about epithelial to mesenchymal transition.
Slide no 2: Describes about molecular markers of epithelial cell and mesenchymal cell.
Slide no 3 : Describes about transcription factors that induce EMT
Slide no 4 : Describes about how different transcription factors will function
Slide no 5 : Describes about roll of micro- RNAs in EMT
Slide no 6 and 7 : Describes about signaling pathways involve in EMT
Slide no 8 : Describes about roll of EMT in tumor metastasis
Slide no 9 : Describes about roll of EMT in tumor microenvironment
Slide no 10 and 11 : Describes about roll of EMT in embryonic development
Gene therapy of genetic disorders like hepatitis, neuroblastoma, thalassemiaD.R. Chandravanshi
Gene therapy is the modern techniques of treatment of various diseases and disorders.
Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases.
It is a technique for correcting defective genes responsible for disease development.
Inactivating, or “knocking out,” a mutated gene that is functioning improperly.
The first approved gene therapy experiment occurred on September1990 in US, when Ashanti DeSilva was treated for ADA-SCID.
Under the direction of William French Anderson, at the National Institutes of Health (NIH),
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells
1) Telomeres are protective nucleoprotein structures at the ends of chromosomes that shorten with each cell division due to the end replication problem.
2) Telomerase is an enzyme that adds telomeric repeats to chromosome ends to counteract shortening and allow indefinite cell division.
3) Telomerase activation allows cancer cells to avoid replicative senescence and become immortalized, while preceding telomere shortening provides a mechanism for genetic instability and tumor progression.
Genetic testing and counseling can help determine cancer risk based on family history and genetic mutations. Most cancers are sporadic but 5-10% are hereditary due to inherited gene mutations. Genetic counselors use family histories and genetic tests to assess cancer risks, recommend screening, and provide counseling to relatives. While some cancers have clear high-risk genes, most have contributions from multiple common and rare variants, so interpretation requires expertise.
This document discusses the genetics of cancer. It explains that cancer is a genetic disease caused by mutations in somatic cells that lead to uncontrolled cell growth and metastasis. Key points include: cancer arises from multiple mutations over time; proto-oncogenes and tumor suppressor genes are involved in regulating cell growth and when mutated can cause cancer; viruses and environmental carcinogens can also cause cancer-causing mutations. The document covers various specific cancers and genes involved like p53, Ras, and BRCA1.
The Hedgehog pathway was discovered in fruit fly (Drosophila) and is conserved in vertebrates (including humans)
The Hedgehog pathway is involved in cell growth and differentiation to control organ formation during embryonic development.
Hedgehog signalling regulates embryonic development, ensuring that tissues reach their correct size and location, maintaining tissue polarity and cellular content.
In the skin, the Hedgehog pathway is critical for regulating hair follicle and sebaceous gland development.
Germline mutations in components of the Hedgehog signalling pathway results in a number of developmental abnormalities.
Hedgehog signalling normally remains inactive in most adult tissues
The epithelial to-mesenchymal transition (EMT) in cancer-metastasisArka Laha
This slide is about role of EMT in cancer metastasis, how EMT plays a critical role in metastatic tumor development and in the last part of the slide we discuss about the role of EMT in embryonic development purpose.
Slide no 1 : Describes about epithelial to mesenchymal transition.
Slide no 2: Describes about molecular markers of epithelial cell and mesenchymal cell.
Slide no 3 : Describes about transcription factors that induce EMT
Slide no 4 : Describes about how different transcription factors will function
Slide no 5 : Describes about roll of micro- RNAs in EMT
Slide no 6 and 7 : Describes about signaling pathways involve in EMT
Slide no 8 : Describes about roll of EMT in tumor metastasis
Slide no 9 : Describes about roll of EMT in tumor microenvironment
Slide no 10 and 11 : Describes about roll of EMT in embryonic development
Gene therapy of genetic disorders like hepatitis, neuroblastoma, thalassemiaD.R. Chandravanshi
Gene therapy is the modern techniques of treatment of various diseases and disorders.
Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases.
It is a technique for correcting defective genes responsible for disease development.
Inactivating, or “knocking out,” a mutated gene that is functioning improperly.
The first approved gene therapy experiment occurred on September1990 in US, when Ashanti DeSilva was treated for ADA-SCID.
Under the direction of William French Anderson, at the National Institutes of Health (NIH),
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells
1) Telomeres are protective nucleoprotein structures at the ends of chromosomes that shorten with each cell division due to the end replication problem.
2) Telomerase is an enzyme that adds telomeric repeats to chromosome ends to counteract shortening and allow indefinite cell division.
3) Telomerase activation allows cancer cells to avoid replicative senescence and become immortalized, while preceding telomere shortening provides a mechanism for genetic instability and tumor progression.
Genetic testing and counseling can help determine cancer risk based on family history and genetic mutations. Most cancers are sporadic but 5-10% are hereditary due to inherited gene mutations. Genetic counselors use family histories and genetic tests to assess cancer risks, recommend screening, and provide counseling to relatives. While some cancers have clear high-risk genes, most have contributions from multiple common and rare variants, so interpretation requires expertise.
This document discusses the genetics of cancer. It explains that cancer is a genetic disease caused by mutations in somatic cells that lead to uncontrolled cell growth and metastasis. Key points include: cancer arises from multiple mutations over time; proto-oncogenes and tumor suppressor genes are involved in regulating cell growth and when mutated can cause cancer; viruses and environmental carcinogens can also cause cancer-causing mutations. The document covers various specific cancers and genes involved like p53, Ras, and BRCA1.
The Hedgehog pathway was discovered in fruit fly (Drosophila) and is conserved in vertebrates (including humans)
The Hedgehog pathway is involved in cell growth and differentiation to control organ formation during embryonic development.
Hedgehog signalling regulates embryonic development, ensuring that tissues reach their correct size and location, maintaining tissue polarity and cellular content.
In the skin, the Hedgehog pathway is critical for regulating hair follicle and sebaceous gland development.
Germline mutations in components of the Hedgehog signalling pathway results in a number of developmental abnormalities.
Hedgehog signalling normally remains inactive in most adult tissues
Stem cells can differentiate into many specialized cell types and can divide to produce more stem cells. The main types are embryonic, adult, and induced pluripotent stem cells. Embryonic stem cells are derived from the inner cell mass of blastocysts and are pluripotent, while adult stem cells are tissue-specific and multipotent. In 2007, induced pluripotent stem cells were discovered whereby adult cells can be reprogrammed into pluripotent stem cells. Stem cell research continues to provide potential treatments for diseases.
(1) Stem cells can be embryonic, adult, or induced pluripotent. Embryonic stem cells are pluripotent while adult stem cells are multipotent.
(2) Cancer stem cells are a small fraction of tumor cells that can self-renew and differentiate to form the heterogeneous tumor mass. They rely on signaling pathways like JAK/STAT, Hedgehog, Wnt, and Notch to maintain their stem-like properties.
(3) Targeting these pathways and surface markers on cancer stem cells is a promising strategy for cancer treatment, though more research is still needed to develop effective therapies.
This document provides an overview of the molecular foundations of cancer. It discusses how cancer arises from genetic and epigenetic aberrations that accumulate in cells and lead to altered gene expression and the acquisition of hallmark capabilities that allow tumors to form and progress. Key points covered include the types of genomic changes like mutations and chromosome defects that occur; the roles of oncogenes and tumor suppressor genes; how cancer risk can be inherited; and the uses of genomics in cancer diagnosis and targeted treatment.
Molecular cytogenetics involves combining molecular biology techniques with cytogenetics. This document discusses several molecular cytogenetic techniques including karyotyping, FISH, CGH, and SKY. Karyotyping allows visualization of whole chromosome sets but cannot detect small structural abnormalities. FISH uses fluorescent probes to detect specific DNA sequences on chromosomes. CGH analyzes copy number variations by comparing test and reference DNA samples hybridized to probes. SKY simultaneously visualizes all chromosome pairs in different colors, making abnormalities easy to identify. These techniques are useful for detecting chromosomal abnormalities that can cause genetic disorders and economic losses if spread within animal populations. Preventing the dissemination of abnormalities through genetic testing is important.
Tissue engineering and stem cell by regenerative medicine.pptx badal 2014Pradeep Kumar
The document discusses the history and applications of tissue engineering using stem cells for regenerative medicine. It provides background on the field of tissue engineering and milestones from the 1960s to present. It describes different types of stem cells like hematopoietic, mesenchymal, embryonic and their uses. Applications discussed include using stem cells to treat diseases like cardiovascular disease, diabetes, and neurological disorders. Recent advances mentioned are growing tissues like ears, noses, kidneys and pancreatic islets using 3D printing and scaffolds. The document concludes by noting both the promise and challenges of tissue engineering for regenerative medicine.
Introduction.
Properties of Stem Cells.
Key Research events.
Embryonic Stem Cell.
Stem cell Cultivation.
Stem cells are central to three processes in an organism.
Research & Clinical Application of stem cell.
Research patents.
Conclusion.
Reference.
Genomic imprinting is an epigenetic phenomenon where genes are differentially expressed based on whether they are inherited from the father or mother. It results in the silencing of one parental allele. Imprinting occurs through DNA methylation and histone modifications and is regulated by imprinting control regions. Disruptions to imprinting through uniparental disomy can cause Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome and cancer. Imprinting is found primarily in mammals and is thought to have evolved from parent-offspring conflict over resource allocation during development.
This document discusses various methods for single nucleotide polymorphism (SNP) analysis, including their principles, advantages, and disadvantages. It describes SNP genotyping techniques like RFLP-PCR, TaqMan assays, microarrays, Sanger sequencing, SNaPshot, and next-generation sequencing. The key aspects are accuracy, throughput, cost, and ability to detect both known and unknown SNPs. The document emphasizes choosing methods based on required information extraction and cost effectiveness.
What are stem cells? This presentation provides an overview of multiple different stem cells including embryonic stem cells, mesenchymal stem cells, cancer stem cells, induced pluripotent stem cells, hematopoietic stem cells and neural stem cells.
Genetic changes play a key role in cancer development. Cancer arises due to mutations in genes that regulate cell growth, such as oncogenes and tumor suppressor genes. Oncogenes promote cell growth when activated by mutations, while tumor suppressor genes normally inhibit cell growth but require two mutations to be inactivated. Many cancers are caused by the accumulation of both germline and somatic mutations in genes over time. Certain inherited genetic syndromes predispose individuals to specific cancer types if high-risk genes are mutated.
Gene therapy involves inserting normal genes into cells to treat genetic diseases. The first successful gene therapy trial treated a patient with severe combined immunodeficiency (SCID) caused by adenosine deaminase (ADA) deficiency. The procedure involved removing the patient's lymphocytes, infecting them with a retrovirus carrying the normal ADA gene, allowing the gene to integrate and express ADA, and returning the modified lymphocytes to the patient to permanently produce the enzyme. This landmark trial established gene therapy as a viable treatment approach for genetic diseases.
Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that allows detection of copy number variations between a test and reference DNA sample without cell culturing. CGH involves labeling and hybridizing test and reference DNA to normal metaphase chromosomes before visualizing differences in fluorescence to identify regions of gains or losses. While CGH was originally used for cancer research, it can also detect chromosomal abnormalities associated with genetic disorders and has improved resolution over traditional cytogenetic methods. The main limitations of CGH are its inability to detect structural aberrations without copy number changes and resolutions above 5-10 megabases.
There are several types of immortalized cell lines that are important research tools. Some cell lines were derived from cancers and underwent mutations that allowed unlimited proliferation, similar to cancerous cells. Other normal cell lines can be immortalized through intentional induction of mutations. The best known immortalized cell line is HeLa, which was derived from a cervical cancer in 1951 and was the first human cells successfully cloned. Vero cells come from monkey kidney cells and are widely used as hosts for growing viruses and parasites. Immortalized cell lines have undergone genetic changes that allow unlimited division, unlike primary cells which eventually senesce and stop dividing.
Epithelial and mesenchymal transition in invasion and metastasisAshwini Gowda
This document discusses neoplasia and the process of metastasis. It defines neoplasia as new, uncontrolled growth and describes the hallmarks of cancer cells, including autonomous growth, loss of differentiation, invasion and metastasis. It explains the multi-step process of metastasis, beginning with local invasion of tumor cells into surrounding tissue facilitated by degradation of the extracellular matrix and migration of cells. The document then discusses the vascular dissemination of tumor cells and colonization at distant sites, outlining several theories for how metastatic potential arises in tumors. Key genes and pathways involved in epithelial-mesenchymal transition and the generation of cancer stem cells are also reviewed.
history ,definition,type of stem cells , characters of stem cells , source, stem cell banking , indications of stem cell therapy ,applications in gynaecology
Metastatic cascade and Epithelial Mesenchymal TransitionShruti Dogra
This document provides an overview of cancer metastasis and the epithelial-mesenchymal transition (EMT) process. It discusses the metastatic cascade, which involves tumor cell invasion, intravasation into blood vessels, transport through circulation, extravasation and homing to distant sites, and formation of secondary tumors. EMT is described as a key step in metastasis that allows epithelial cells to detach from primary tumors and migrate. The molecular and cellular changes involved in EMT include loss of epithelial markers like E-cadherin and gain of mesenchymal markers. Transcription factors such as Snail, Slug, Twist, and ZEB play important roles in inducing EMT. Understanding metastasis and EMT can help develop strategies to prevent cancer spread
The document discusses induced pluripotent stem cells (iPSCs), which are derived from adult somatic cells that are reprogrammed by introducing genes associated with pluripotency. iPSCs were first generated in 2006 and resemble embryonic stem cells. They can be produced from a person's own cells and have potential applications in disease modeling, drug development, and regenerative medicine without ethical issues associated with embryonic stem cells.
Chapter 5 hereditary cancer syndrome next generationNilesh Kucha
This document provides an overview of hereditary cancers and genetic testing. It discusses:
- The difference between sporadic and hereditary cancers, with hereditary cancers making up 10% of cases and being caused by germline mutations passed down from a parent.
- Several hereditary cancer syndromes are described in detail, including BRCA1/2 associated with breast and ovarian cancer, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome.
- Surveillance recommendations are provided for each syndrome to enable early cancer detection.
- The role of genetic testing is discussed to identify mutations that cause hereditary cancer syndromes and guide patient management.
1) A paternally expressed imprinted gene PEG2 acts as a molecular sponge for a transposon-derived small interfering RNA (siRNA854) in Arabidopsis.
2) PEG2 sequesters siRNA854 in triploid seeds, inhibiting the targeting of siRNA854's natural target genes and leading to triploid seed abortion.
3) Mutating the siRNA854 binding site in PEG2 prevents siRNA854 sequestration and allows translation of PEG2 in triploid seeds, restoring their viability. This demonstrates that the balance of siRNA854 levels regulated by PEG2 determines triploid seed survival.
Emerging landscape of oncogenic signatures across human cancers Raunak Shrestha
The document summarizes the findings of The Cancer Genome Atlas Pan-Cancer analysis project, which analyzed over 3,000 tumors across 12 cancer types. The analysis integrated genomic and epigenomic alterations and identified two major clusters of tumors - Cluster I (M class) with primarily somatic mutations, and Cluster II (C class) with primarily copy number alterations. It also observed an inverse relationship between the number of copy number alterations and somatic mutations across cancer types. Several therapeutically actionable targets were nominated across tumor types based on oncogenic signatures and pathways. The analysis provides tissue-independent classification of tumors and insight into mechanisms of oncogenesis and potential therapeutic targets.
CNVs have been found in many cancers including colon cancer and are thought to contribute to cancer development by altering gene dosage of oncogenes and tumor suppressors. Studies have shown that CNVs present in cancer cells are often absent in normal cells from the same patient. While the role of CNVs in cancer risk is still being explored, certain CNVs are associated with hereditary cancer syndromes that increase risk of colon cancer. Further research on cancer CNVs may lead to new biomarkers for cancer susceptibility, progression, and metastasis.
Stem cells can differentiate into many specialized cell types and can divide to produce more stem cells. The main types are embryonic, adult, and induced pluripotent stem cells. Embryonic stem cells are derived from the inner cell mass of blastocysts and are pluripotent, while adult stem cells are tissue-specific and multipotent. In 2007, induced pluripotent stem cells were discovered whereby adult cells can be reprogrammed into pluripotent stem cells. Stem cell research continues to provide potential treatments for diseases.
(1) Stem cells can be embryonic, adult, or induced pluripotent. Embryonic stem cells are pluripotent while adult stem cells are multipotent.
(2) Cancer stem cells are a small fraction of tumor cells that can self-renew and differentiate to form the heterogeneous tumor mass. They rely on signaling pathways like JAK/STAT, Hedgehog, Wnt, and Notch to maintain their stem-like properties.
(3) Targeting these pathways and surface markers on cancer stem cells is a promising strategy for cancer treatment, though more research is still needed to develop effective therapies.
This document provides an overview of the molecular foundations of cancer. It discusses how cancer arises from genetic and epigenetic aberrations that accumulate in cells and lead to altered gene expression and the acquisition of hallmark capabilities that allow tumors to form and progress. Key points covered include the types of genomic changes like mutations and chromosome defects that occur; the roles of oncogenes and tumor suppressor genes; how cancer risk can be inherited; and the uses of genomics in cancer diagnosis and targeted treatment.
Molecular cytogenetics involves combining molecular biology techniques with cytogenetics. This document discusses several molecular cytogenetic techniques including karyotyping, FISH, CGH, and SKY. Karyotyping allows visualization of whole chromosome sets but cannot detect small structural abnormalities. FISH uses fluorescent probes to detect specific DNA sequences on chromosomes. CGH analyzes copy number variations by comparing test and reference DNA samples hybridized to probes. SKY simultaneously visualizes all chromosome pairs in different colors, making abnormalities easy to identify. These techniques are useful for detecting chromosomal abnormalities that can cause genetic disorders and economic losses if spread within animal populations. Preventing the dissemination of abnormalities through genetic testing is important.
Tissue engineering and stem cell by regenerative medicine.pptx badal 2014Pradeep Kumar
The document discusses the history and applications of tissue engineering using stem cells for regenerative medicine. It provides background on the field of tissue engineering and milestones from the 1960s to present. It describes different types of stem cells like hematopoietic, mesenchymal, embryonic and their uses. Applications discussed include using stem cells to treat diseases like cardiovascular disease, diabetes, and neurological disorders. Recent advances mentioned are growing tissues like ears, noses, kidneys and pancreatic islets using 3D printing and scaffolds. The document concludes by noting both the promise and challenges of tissue engineering for regenerative medicine.
Introduction.
Properties of Stem Cells.
Key Research events.
Embryonic Stem Cell.
Stem cell Cultivation.
Stem cells are central to three processes in an organism.
Research & Clinical Application of stem cell.
Research patents.
Conclusion.
Reference.
Genomic imprinting is an epigenetic phenomenon where genes are differentially expressed based on whether they are inherited from the father or mother. It results in the silencing of one parental allele. Imprinting occurs through DNA methylation and histone modifications and is regulated by imprinting control regions. Disruptions to imprinting through uniparental disomy can cause Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome and cancer. Imprinting is found primarily in mammals and is thought to have evolved from parent-offspring conflict over resource allocation during development.
This document discusses various methods for single nucleotide polymorphism (SNP) analysis, including their principles, advantages, and disadvantages. It describes SNP genotyping techniques like RFLP-PCR, TaqMan assays, microarrays, Sanger sequencing, SNaPshot, and next-generation sequencing. The key aspects are accuracy, throughput, cost, and ability to detect both known and unknown SNPs. The document emphasizes choosing methods based on required information extraction and cost effectiveness.
What are stem cells? This presentation provides an overview of multiple different stem cells including embryonic stem cells, mesenchymal stem cells, cancer stem cells, induced pluripotent stem cells, hematopoietic stem cells and neural stem cells.
Genetic changes play a key role in cancer development. Cancer arises due to mutations in genes that regulate cell growth, such as oncogenes and tumor suppressor genes. Oncogenes promote cell growth when activated by mutations, while tumor suppressor genes normally inhibit cell growth but require two mutations to be inactivated. Many cancers are caused by the accumulation of both germline and somatic mutations in genes over time. Certain inherited genetic syndromes predispose individuals to specific cancer types if high-risk genes are mutated.
Gene therapy involves inserting normal genes into cells to treat genetic diseases. The first successful gene therapy trial treated a patient with severe combined immunodeficiency (SCID) caused by adenosine deaminase (ADA) deficiency. The procedure involved removing the patient's lymphocytes, infecting them with a retrovirus carrying the normal ADA gene, allowing the gene to integrate and express ADA, and returning the modified lymphocytes to the patient to permanently produce the enzyme. This landmark trial established gene therapy as a viable treatment approach for genetic diseases.
Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that allows detection of copy number variations between a test and reference DNA sample without cell culturing. CGH involves labeling and hybridizing test and reference DNA to normal metaphase chromosomes before visualizing differences in fluorescence to identify regions of gains or losses. While CGH was originally used for cancer research, it can also detect chromosomal abnormalities associated with genetic disorders and has improved resolution over traditional cytogenetic methods. The main limitations of CGH are its inability to detect structural aberrations without copy number changes and resolutions above 5-10 megabases.
There are several types of immortalized cell lines that are important research tools. Some cell lines were derived from cancers and underwent mutations that allowed unlimited proliferation, similar to cancerous cells. Other normal cell lines can be immortalized through intentional induction of mutations. The best known immortalized cell line is HeLa, which was derived from a cervical cancer in 1951 and was the first human cells successfully cloned. Vero cells come from monkey kidney cells and are widely used as hosts for growing viruses and parasites. Immortalized cell lines have undergone genetic changes that allow unlimited division, unlike primary cells which eventually senesce and stop dividing.
Epithelial and mesenchymal transition in invasion and metastasisAshwini Gowda
This document discusses neoplasia and the process of metastasis. It defines neoplasia as new, uncontrolled growth and describes the hallmarks of cancer cells, including autonomous growth, loss of differentiation, invasion and metastasis. It explains the multi-step process of metastasis, beginning with local invasion of tumor cells into surrounding tissue facilitated by degradation of the extracellular matrix and migration of cells. The document then discusses the vascular dissemination of tumor cells and colonization at distant sites, outlining several theories for how metastatic potential arises in tumors. Key genes and pathways involved in epithelial-mesenchymal transition and the generation of cancer stem cells are also reviewed.
history ,definition,type of stem cells , characters of stem cells , source, stem cell banking , indications of stem cell therapy ,applications in gynaecology
Metastatic cascade and Epithelial Mesenchymal TransitionShruti Dogra
This document provides an overview of cancer metastasis and the epithelial-mesenchymal transition (EMT) process. It discusses the metastatic cascade, which involves tumor cell invasion, intravasation into blood vessels, transport through circulation, extravasation and homing to distant sites, and formation of secondary tumors. EMT is described as a key step in metastasis that allows epithelial cells to detach from primary tumors and migrate. The molecular and cellular changes involved in EMT include loss of epithelial markers like E-cadherin and gain of mesenchymal markers. Transcription factors such as Snail, Slug, Twist, and ZEB play important roles in inducing EMT. Understanding metastasis and EMT can help develop strategies to prevent cancer spread
The document discusses induced pluripotent stem cells (iPSCs), which are derived from adult somatic cells that are reprogrammed by introducing genes associated with pluripotency. iPSCs were first generated in 2006 and resemble embryonic stem cells. They can be produced from a person's own cells and have potential applications in disease modeling, drug development, and regenerative medicine without ethical issues associated with embryonic stem cells.
Chapter 5 hereditary cancer syndrome next generationNilesh Kucha
This document provides an overview of hereditary cancers and genetic testing. It discusses:
- The difference between sporadic and hereditary cancers, with hereditary cancers making up 10% of cases and being caused by germline mutations passed down from a parent.
- Several hereditary cancer syndromes are described in detail, including BRCA1/2 associated with breast and ovarian cancer, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome.
- Surveillance recommendations are provided for each syndrome to enable early cancer detection.
- The role of genetic testing is discussed to identify mutations that cause hereditary cancer syndromes and guide patient management.
1) A paternally expressed imprinted gene PEG2 acts as a molecular sponge for a transposon-derived small interfering RNA (siRNA854) in Arabidopsis.
2) PEG2 sequesters siRNA854 in triploid seeds, inhibiting the targeting of siRNA854's natural target genes and leading to triploid seed abortion.
3) Mutating the siRNA854 binding site in PEG2 prevents siRNA854 sequestration and allows translation of PEG2 in triploid seeds, restoring their viability. This demonstrates that the balance of siRNA854 levels regulated by PEG2 determines triploid seed survival.
Emerging landscape of oncogenic signatures across human cancers Raunak Shrestha
The document summarizes the findings of The Cancer Genome Atlas Pan-Cancer analysis project, which analyzed over 3,000 tumors across 12 cancer types. The analysis integrated genomic and epigenomic alterations and identified two major clusters of tumors - Cluster I (M class) with primarily somatic mutations, and Cluster II (C class) with primarily copy number alterations. It also observed an inverse relationship between the number of copy number alterations and somatic mutations across cancer types. Several therapeutically actionable targets were nominated across tumor types based on oncogenic signatures and pathways. The analysis provides tissue-independent classification of tumors and insight into mechanisms of oncogenesis and potential therapeutic targets.
CNVs have been found in many cancers including colon cancer and are thought to contribute to cancer development by altering gene dosage of oncogenes and tumor suppressors. Studies have shown that CNVs present in cancer cells are often absent in normal cells from the same patient. While the role of CNVs in cancer risk is still being explored, certain CNVs are associated with hereditary cancer syndromes that increase risk of colon cancer. Further research on cancer CNVs may lead to new biomarkers for cancer susceptibility, progression, and metastasis.
Precision Medicine and its potential in Cancer management & treatment.pptxGunjitSetia1
Precision medicine is a revolutionary approach in healthcare that harnesses cutting-edge technologies and genetic insights to transform cancer management and treatment. By tailoring medical interventions to the unique genetic and molecular characteristics of each patient's cancer, precision medicine holds the potential to significantly improve outcomes and reduce side effects. In this era of personalized oncology, we explore the promising role of precision medicine in the battle against cancer, offering new avenues for early detection, targeted therapies, and more effective treatment strategies.
This document discusses the opportunities and challenges of translating next generation sequencing (NGS) technologies from research to clinical practice in oncology. NGS allows comprehensive genomic profiling of tumors through whole genome sequencing, copy number analysis, and transcriptome analysis. This can provide clinically actionable information to guide treatment. However, there are challenges in validating the technologies, interpreting the large amount of genomic data clinically, and establishing standards and guidelines for clinical use. The document outlines the major steps needed for adoption, including ensuring the technical and clinical validity of NGS, developing clinical decision support tools, establishing regulatory approval and reimbursement pathways, and educating medical professionals.
This document summarizes research on analyzing clinical and molecular cancer data to enable precision cancer medicine. It discusses analyzing tumor heterogeneity, transcriptional subtyping of colorectal cancer, identifying biomarkers of drug response, and exploring these concepts using patient-derived xenograft models. Key findings include identifying microRNAs that antagonize a poor-prognosis colorectal cancer subtype and finding kinase genes that are therapeutic targets in otherwise resistant tumor cells and xenografts.
1. cancer care.pdf medical surgical nursing 1akoeljames8543
This document provides an overview of cancer principles and concepts in Kenya. It discusses Kenya's health policy goals to address rising non-communicable diseases like cancer. Cancer arises due to uncontrolled cell growth and can spread through the body. Risk factors include genetics, behaviors, age, and environmental exposures. Diagnosis relies on tissue biopsy. Cancer management involves multidisciplinary teams. Prevention strategies include screening and avoiding risk factors. Genetic testing can assess cancer risk in families with predispositions. The cell cycle is important to understand cancer development.
This document discusses how the Cancer Genome Atlas (TCGA) project, which aimed to sequence tumors to identify genetic changes and develop treatments, is now at a crossroads due to the confounding factor of intratumoral heterogeneity. Sequencing more tumors with single biopsies cannot capture heterogeneity between tumor parts or over time. Obtaining multiple biopsies presents logistical challenges. Recent studies reveal significant genetic differences within individual tumors in space and time. This challenges the utility of TCGA's approach and whether its data can guide treatment. Better methods are needed to address tumor heterogeneity.
This document provides an overview of neoplasms and cancer. It defines a neoplasm as abnormal cell growth and defines cancer as a genetic disease caused by mutations. It describes the components, classification, characteristics and molecular basis of cancers. It discusses the differences between benign and malignant tumors. It also covers cancer epidemiology in Bangladesh, noting that cervical cancer is most common in women and lung cancer is increasing in men. The document concludes by emphasizing the importance of early detection, timely treatment and raising awareness to reduce cancer mortality.
A normal cell can be transformed into a cancerous cell. Discuss the therapeutic strategies that are employed to target the cellular transformation process for cancer prevention and treatment.
The document provides information about oncology nursing including objectives, cancer pathophysiology, risk factors, prevention, screening, detection methods, grading and staging of cancer, common cancer types, and nursing interventions. Key points include identifying risk factors from a patient's history, formulating nursing diagnoses, utilizing interventions to maintain health, providing spiritual care, and displaying caring behavior in the delivery of cancer nursing care.
A normal cell can be transformed into a cancerous cell. Discuss the therapeutic strategies that are employed to target the cellular transformation process for cancer prevention and treatment.
This study used high-density SNP microarrays to analyze chromosomal changes in 86 paired colorectal cancer and normal tissue samples from Bangladeshi patients. The researchers identified common regions of amplification on chromosomes 20q, 13q, 8q, and 5p and deletions on 18q, 17p, and 8p. They also detected mosaicism and different types of chromosomal abnormalities that could not be assessed by other methods. By matching genes in altered regions to drug databases, the researchers identified potential targeted therapies for personalized treatment based on a patient's cytogenetic profile. This represents an application of high-density SNP arrays for colorectal cancer cytogenetics and personalized treatment approaches.
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. The most common cancers worldwide are lung, breast, colorectal, prostate, and skin cancer. Genetic changes can contribute to cancer risk and growth by affecting genes that control cell growth and division. The TNM staging system is used to assess tumor spread and involves evaluating the extent of the primary tumor (T), whether the cancer has spread to regional lymph nodes (N), and if distant metastases are present (M).
Question of Quality Conference 2016 - Personalized Cancer MedicineHCA Healthcare UK
This document summarizes a presentation on personalized cancer medicine. It discusses:
1. A brief history of precision oncology, from identifying the Philadelphia chromosome in 1960 to recent advances in immunotherapy.
2. The concept of driver mutations that directly or indirectly confer growth advantages to cancer cells and have clinical implications for diagnosis, prognosis, or targeted therapies.
3. How next-generation sequencing can best identify all four classes of genomic alterations that drive tumor growth by sequencing both DNA and RNA.
4. Some case histories where genomic profiling identified targetable alterations and patients benefited from matched targeted therapies.
5. Concluding thoughts on the complexity of the cancer genome and how comprehensive genomic profiling is enabling evidence-based
Tariq Mughal discusses personalized cancer medicine and highlights some key points:
1. Precision medicine has evolved greatly over the past few decades from basic cytogenetics and hormone therapies to comprehensive genomic profiling and immunotherapy. Targeted therapies are revolutionizing cancer treatment.
2. Driver mutations directly or indirectly confer a growth advantage to cancer cells and have clinical implications for diagnosis, prognosis, and targeted therapies. Comprehensive genomic profiling using next-generation sequencing can best identify all classes of driver mutations.
3. Case histories demonstrate how genomic profiling can identify targetable genomic alterations like ERBB2 mutations, ALK fusions, and FBXW7 mutations and guide treatment with targeted therapies, often with dramatic responses
This document discusses Illumina, Inc., a company that develops and manufactures systems for genetic analysis including next-generation sequencing technologies. It provides background on Illumina such as its founding, headquarters location, employees, awards received, and FDA clearance of its MiSeqDx sequencing platform. The document then discusses applications of genomic testing and next-generation sequencing in areas like cancer, inherited diseases, microbiology, and more. It also summarizes differences between Sanger sequencing and next-generation sequencing technologies.
This document discusses cancer and its genetic basis. It begins by introducing cancer and how it is caused by the accumulation of genetic damage over time through mutations in genes that control cell growth. Key points include: cancers originate from mutations in somatic cells, not germ cells; carcinomas make up over 90% of cancers and originate from endodermal or ectodermal tissues; the ability of cancer cells to invade and metastasize distinguishes malignant from benign tumors. The document then covers specific genetic mutations and cellular processes involved in cancer development.
This document summarizes a presentation on personalized medicine approaches for ovarian cancer patients. It discusses how inherited mutations, molecular abnormalities in tumors, and components in blood can be used to design personalized treatment plans. It provides examples of clinical trials targeting BRCA mutations, p53 pathways, folate receptors, and immunotherapy. While personalized medicine holds promise, challenges remain due to tumor heterogeneity, redundant pathways, and limitations of current methods like xenografts. Improved validation of genetic risk loci and minimizing toxicity are areas for future work.
This document discusses tumor markers and their use in monitoring tumor response to therapy. It provides information on different types of tumor markers including proteins, enzymes, hormones, genetic markers and circulating tumor cells. Ideal tumor markers are highly sensitive and specific, correlate with tumor stage and prognosis, and can be used for screening, diagnosis, prognosis, monitoring treatment and detecting recurrence. Examples discussed include CEA, AFP, PSA, CA125 and circulating tumor cells. The Oncotype DX 21-gene recurrence score test and tissue polypeptide specific antigen are also summarized.
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
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Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
2. Darwinian evolution
(of species)
• Time-scale: hundreds of millions of years
•Organisms reproduce and die in an
environment with shared resources
• Inheritable germline mutations
(variability)
• Selection (survival of the fittest)
3. Somatic
evolution
• Time-scale: tens of years
•Cells reproduce and die inside an organ of one organism
•Inheritable mutations in cells’ genomes (variability)
• Selection (survival of the fittest)
4. Cancer as somatic
evolutionCells in a multicellular organism have evolved to co-operate and perform
their respective functions for the good of the whole organism
A mutant cell that “refuses” to co-operate may have a selective advantage
The offspring of such a cell may spread
This is a beginning of cancer
5. Somatic mutations types
increasing survival or proliferation (so called ‘‘driver’’ mutations)
selectively neutral
disadvantageous to the cell and result in its death or senescence
13. Key words
Driver mutation: a mutation that gives a selective advantage to a clone in its microenvironment, through either increasing
its survival or reproduction. Driver mutations tend to cause clonal expansions.
Passenger mutation: a mutation that has no effect on the fitness of a clone but may be associated with a clonal expansion
because it occurs in the same genome with a driver mutation. This is known as a hitchhiker in evolutionary biology.
Negative selection
(natural selection): the selective removal of rare alleles that are deleterious
(artificial selection): when negative, rather than positive, traits of a species are selected for
(immunology): in which B-cells and T-cells that recognize MHC molecules bound to peptides of self-origin, or just MHC
molecules with high affinity are deleted from the repertoire of immune cells.
positive selection: A point mutation is under positive or directional selection if it confers a fitness benefit. Natural selection
favors its bearer and will thus increase its frequency.
Germline evolution?
Cancer evolution?
Importance of Negative selection in cancer evolution: identify genes essential for cancer growth
identify patterns of synthetic lethality
potentially yielding new therapeutic targets
14.
15. synonymous
non-synonymous
dN/dS
A ratio greater than 1 implies positive or Darwinian selection (driving change)
less than 1 implies purifying or stabilizing selection (acting against change)
exactly 1 indicates neutral (i.e. no) selection
16. Main questions in cancer evolution
1- Which genes?
2- How many mutations?
3- Importance of negative selection?
17. Methodology
d METHOD DETAILS
Calling of point mutations and indels
Quality controls and use of TCGA calls in five cancer types
Calling of copy number changes
List of 369 known cancer genes
QUANTIFICATION AND STATISTICAL ANALYSIS
dN/dS model for cancer genomics
Screen for positive selection at gene level (driver gene discovery)
Negative selection analyses
Simplistic substitution models lead to biased dN/dS ratios and false inference of selection
Impact of germline SNP contamination or SNP overfiltering
Cohort estimation of dN/dS without patient-specific substitution models
Estimation of the number of driver mutations
Replication strand bias
Performance of different dN/dS models for driver discovery
Analyses of hypermutator tumors
d DATA AND SOFTWARE AVAILABILITY
20. Identification of Genes under Positive Selec
Pancancer dN/dS values for missense and nonsense mutations for
genes with significant positive selection on missense mutations
(depicted in red) and/or truncating substitutions.
21. Negative Selection Is Largely Absent for
Coding Substitutions
Average number of selected mutations per tumor based on the inferred distributions
of dN/dS across genes, combining missense and truncating mutations from all copy
number regions
Estimated percentage of genes under different levels of positive and negative
selection based on the inferred dN/dS distribution
22. Number of Driver Mutations
per Tumor
Global dN/dS values obtained for 369 known cancer genes (Table S3). This
analysis uses a single dN/dS ratio for all non-synonymous substitutions
(missense, nonsense, and essential splice site).
Percentage of non-synonymous mutations that are drivers assuming
negligible negative selection.
Average number of driver coding substitutions per tumor. Pancancer refers
to the 24 cancer types with in-house mutation calls.
23.
24. which mutations in a given patient
are drivers?
Left y axis: dN/dS values for missense and truncating
substitutions for a series of driver genes and for different
datasets. Right y axis: Corresponding estimates of the fraction
of driver mutations
25. In the future, such approaches could be used in the clinic to identify which few
mutations in an individual patient are driving his or her cancer, from amongst the
thousands of mutations present.
Professor Sir Mike Stratton, an author of the study and director of the Wellcome Trust Sanger Institute
“We now know of hundreds of genes, that when mutated,
drive cancer. This research shows that across cancer
types a relatively consistent small number of such
mutated genes is required to convert a single normal cell
into a cancer cell, but that the specific genes chosen differ
according to cancer type. The study also shows that we
have not yet identified many of these driver genes and
they will be the target for further searching in the future.
This increasingly precise understanding of the underlying
changes that result in cancer provides the foundation for
the discovery and use of targeted therapies that treat the
disease.”