What is biomarker?
What is the purpose of biomarker
Processes of biomarker development?
Types of Biomarkers
What is biomarker testing for cancer treatment?
Uses of Biomarkers in Cancer Medicine
Uses of Biomarkers in Cancer Drug Discovery
Biomarkers have a diversified role in diagnosis, prognostication and risk stratification. This presentation aims to compile the basic information and new literature on various biomarkers pertaining to cancer care.
What is biomarker?
What is the purpose of biomarker
Processes of biomarker development?
Types of Biomarkers
What is biomarker testing for cancer treatment?
Uses of Biomarkers in Cancer Medicine
Uses of Biomarkers in Cancer Drug Discovery
Biomarkers have a diversified role in diagnosis, prognostication and risk stratification. This presentation aims to compile the basic information and new literature on various biomarkers pertaining to cancer care.
Chemotherapy classes
for more lectures please contact
Dr. Salah Mabrouk Khallaf
MD Medical Oncology & BMT
South Egypt Cancer Institute
Email: salahmab76@yahoo.com
It describes the prevalence of Breast Cancer among BRCA 1/2 mutations with special consideration to biological background, detection and screening, actions taken upon discovering mutation carriers and whether we have a different therapeutic algorithm than sporadic cases. Special emphasis on the role of PARP inhibitors in the management of metastatic disease.
Lung cancer is a major cause of cancer deaths with approximately 80% of cases accounting to nonsmall cell lung cancer (NSCLC) . In NSCLC target therapy, epidermal growth factor receptor (EGFR) is a promising candidate.
Chemotherapy classes
for more lectures please contact
Dr. Salah Mabrouk Khallaf
MD Medical Oncology & BMT
South Egypt Cancer Institute
Email: salahmab76@yahoo.com
It describes the prevalence of Breast Cancer among BRCA 1/2 mutations with special consideration to biological background, detection and screening, actions taken upon discovering mutation carriers and whether we have a different therapeutic algorithm than sporadic cases. Special emphasis on the role of PARP inhibitors in the management of metastatic disease.
Lung cancer is a major cause of cancer deaths with approximately 80% of cases accounting to nonsmall cell lung cancer (NSCLC) . In NSCLC target therapy, epidermal growth factor receptor (EGFR) is a promising candidate.
OMICS Publishing Group, Journal of Medical Microbiology & Diagnosis under Open Access category aims to advance our understanding of medical importance of microorganisms and their capability of causing diseases in human beings. The Journal of Medical Microbiology & Diagnosis is an international, peer-reviewed journal, publishing an overview of current research which includes the contents geared towards infectious disease and public health, anti-microbial chemotherapy, immunity, clinical pathology and nanotechnology in medicine.
A look at future directions for biology. Personalized genomics is a key step in moving towards individualized medicine and preventative interventions. The traditional trial and error approach of molecular biology is being replaced by the direct design of synthetic biology. Synthetically developed energy solutions could have a substantial impact on natural resource demand.
Host-pathogen Interactions, Molecular Basis and Host Defense: Pathogen Detect...QIAGEN
Host–pathogen interactions are strikingly complex during infection. This slidedeck provides an overview of the molecular basis of these intricate interactions: the impact of microbiota on innate and adaptive immunity, metabolism, and insulin resistance and host defense mechanisms. Various research tools will be introduced to simplify and streamline each step of studying the host response, enabling detection of pathogens, analysis of gene expression and regulation, epigenetic modification, genotyping and signal transduction pathway activation.
At our October webinar we spent time reviewing the importance of family history. In this webinar, we will discuss genetic and familial syndromes that are specific to colorectal cancer. We will discuss what you might look for in your family history and think about implications for prevention and management of the colorectal cancer syndromes based on this information!
About our Speakers:
Lisa Ku, MS, CGC | Certified Genetic Counselor at the University of Colorado.
Lisen Axell, MS, CGC | Certified Genetic Counselor at the University of Colorado.
In this webinar, Fight CRC Medical Advisory Board member, Heather Hampel, MS, LGC, will discuss the major sub-types of hereditary colon cancer, the types of genetic tests that by be useful for you and your family, and what to do with your test results.
It contains details about breast carcinoma-pathology,investigations and diagnosis,NACT,surgery and adjuvant therapy. Hope you will find it helpful.....
BRCA – Importance in Hereditary Breast & Ovarian CancerLifecare Centre
BRCA – Importance in Hereditary
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DGF & WOW India
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Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
The French Revolution, which began in 1789, was a period of radical social and political upheaval in France. It marked the decline of absolute monarchies, the rise of secular and democratic republics, and the eventual rise of Napoleon Bonaparte. This revolutionary period is crucial in understanding the transition from feudalism to modernity in Europe.
For more information, visit-www.vavaclasses.com
Acetabularia Information For Class 9 .docxvaibhavrinwa19
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Safalta Digital marketing institute in Noida, provide complete applications that encompass a huge range of virtual advertising and marketing additives, which includes search engine optimization, virtual communication advertising, pay-per-click on marketing, content material advertising, internet analytics, and greater. These university courses are designed for students who possess a comprehensive understanding of virtual marketing strategies and attributes.Safalta Digital Marketing Institute in Noida is a first choice for young individuals or students who are looking to start their careers in the field of digital advertising. The institute gives specialized courses designed and certification.
for beginners, providing thorough training in areas such as SEO, digital communication marketing, and PPC training in Noida. After finishing the program, students receive the certifications recognised by top different universitie, setting a strong foundation for a successful career in digital marketing.
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Synthetic fiber production is a fascinating and complex field that blends chemistry, engineering, and environmental science. By understanding these aspects, students can gain a comprehensive view of synthetic fiber production, its impact on society and the environment, and the potential for future innovations. Synthetic fibers play a crucial role in modern society, impacting various aspects of daily life, industry, and the environment. ynthetic fibers are integral to modern life, offering a range of benefits from cost-effectiveness and versatility to innovative applications and performance characteristics. While they pose environmental challenges, ongoing research and development aim to create more sustainable and eco-friendly alternatives. Understanding the importance of synthetic fibers helps in appreciating their role in the economy, industry, and daily life, while also emphasizing the need for sustainable practices and innovation.
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2. OBJECTIVES
Review the role of genetic susceptibility in
various cancer types
Discuss the genetic syndromes and testing
options of various cancer types
3. GENETICS IN CANCER
5-10% of all malignancies are due to highly
penetrant hereditary cancer predisposition
syndromes [Ballinger, 2012]
Over 400 cancer-related genes have been identified
May account for many familial cancers
Caution! Current clinical testing may
include some of these genes of lower-risk
4. BREAST CANCER
•
•
•
•
Most prevalent type of cancer in women
2nd leading cause of cancer death in the US
New cases in 2012: 229,060 (estimated)
Deaths in 2012: 39,920 (estimated)
15%−20%
5%–10%
Sporadic
Family clusters
Hereditary
5. OVARIAN CANCER
•
•
•
•
22,000 newly diagnosed in the US annually
1.4% lifetime risk
~45% 5-year survival rate
4.6x RR if mother had ovarian cancer and 1.6x RR
is sister [Ziogas et al., 2009]
5%–10%
Sporadic
Hereditary
6. ENDOMETRIAL CANCER
• 47,130 newly diagnosed in 2012 (estimated)
• Lifetime risk is estimated to be 2.5%
• 8,010 estimated deaths in 2012
• Most common heritable form is Lynch syndrome
(a.k.a. hereditary non-polyposis coli) which
represents 2-3% of all cases
• May also be related to Cowden (PTEN Hamartoma
Tumor syndrome) and Peutz-Jeghers
7. COLORECTAL CANCER
•
•
•
•
•
4th most common cancer diagnosis in US
1 in 20 Americans will develop CRC
In 2012, expected number of new cases: 143,460
Expected deaths due to CRC: 51,690
Death rate is declining – early detection and
prevention
5%
General population
15%-20%
Personal h/o CRC
15%–40%
Inflammatory bowel disease
HNPCC mutation
70%–80%
FAP
>95%
0
20
40 60 80 100
Lifetime risk (%)
8. GASTRIC CANCER
•
Estimated 21,320 new diagnoses in the US (2012)
•
Estimated 10,540 deaths in the US (2012)
•
4th leading cause of cancer deaths worldwide
•
5 year survival of 20%
•
3-10% are hereditary
– Hereditary diffuse gastric cancer
– Hereditary breast/ovarian cancer
– Lynch syndrome
– Li-Fraumeni syndrome
– Familial Adenomatous Polyposis
– Juvenile polyposis
– Peutz-Jeghers
9. PANCREATIC CANCER
•
Estimated 43,920 new diagnoses in the US (2012)
•
4th leading cause of cancer-related deaths in the US
– Estimated deaths 37,390 in 2012
•
5-10% are hereditary
– Associated with familial forms of pancreatitis
– Breast-ovarian cancer syndrome (BRCA2 and PALB2)
– Familial multiple melanoma with 0.6-31% lifetime risk
•
Higher risk if first-degree relative with pancreatic ca.
– Lynch syndrome 0.4-4% lifetime risk
– Peutz-Jeghers 8-36% risk
10. MELANOMA
•
•
76,250 new cases in the US in 2012 (estimated)
9,180 estimated attributable deaths in 2012
•
~10% hereditary
– Familial atypical mole-melanoma syndrome
• Accounts 5-7% of all melanoma
– May be associated with HBOCS (BRCA2)
11. PROSTATE CANCER
• Most frequently diagnosed cancer in US men
- 36% of all cancers
• Lifetime risk for men in US: 15-20%
• 241,000 new cases diagnosed in 2012
(estimated)
• 5-10% is heritable
– ~40% under 55y
– Higher in families with
breast/ovarian cancer
5-10%
13. GENETIC SYNDROMES
•
There are those with dysmorphic or characteristic features that also have a
tumor predisposition
–
–
–
–
–
–
–
–
–
–
Beckwith-Wiedemann syndrome
Bloom syndrome
Diamond-Blackfan
Down syndrome
Fanconi anemia
Neurofibromatosis type I and II
Gorlin syndrome (basal cell nevus syndrome)
Rothmund-Thomson syndrome
Tuberous sclerosis
Werner syndrome
14. HEREDITARY BREAST CANCER SYNDROMES
•
Hereditary breast-ovarian cancer (5% of all breast cancer)
•
Li-Fraumeni (~1%)
•
PTEN hamartoma (<1%)
•
Peutz-Jeghers (<1%)
•
Hereditary diffuse gastric cancer syndrome
•
Also:
– Autoimmune lymphoproliferative (ALPS)
– Ataxia telangiectasia
– Bloom syndrome
– Familial melanoma
– Werner syndrome
– Xeroderma pigmentosa
15. HERITABLE OVARIAN
CANCER
• Lifetime risk varies from 12-60%
• Often earlier than those of the general population
• 6-15% breast/ovarian cancer syndrome
• Also includes:
– Lynch syndrome
– Peutz-Jeghers syndrome
16. BREAST/OVARIAN CANCER
SYNDROME
• Primarily BRCA1 and BRCA2
• Frequency of carriers 1 in 300 (BRCA1) to 1 in 800 (BRCA2)
– Ashkenazi Jewish (1 in 40)
• Accounts for >90% of families with breast and ovarian cancers
17. BREAST-OVARIAN CANCER
SYNDROME
•
Of those with BRCA1 mutations:
– 50-80% risk of invasive breast carcinoma-females
• ~1% risk for males
– Up to 60% risk of serous ovarian carcinoma
– Up to 30% risk of prostate cancer
– 1-3% risk of pancreatic
•
Of those with BRCA2 mutations:
– 40-85% risk of invasive breast carcinoma-females
• 6-7% risk for males
– Up to 35% risk of serous ovarian carcinoma
– Up to 39% risk of prostate cancer
– 2-7% risk of pancreatic
18. HBOCS- TUMOR
CHARACTERISTICS
• Breast tumor often originates from breast
epithelia cells
– Basal keratin positive
• More commonly a/w with invasive lobular
and ductal carcinoma as well as DCIS
• More likely to be high-grade malignancies
and lymph node positive
– Estrogen receptor negative
– Progesterone receptor negative
– Her2/neu negative
• >90% ovarian serous adenocarcinoma
19. HEREDITARY CRC
SYNDROMES
•
Accounts for 5-10% of all CRC cases
•
Polyposis types:
– Adenomatous
• Familial adenomatous polyposis (<1%)
• MYH-associated polyposis (<1%)
– Hamartomatous
• Juvenile polyposis (<1%)
• Peutz-Jeghers
• Cowden (PTEN)
•
Lynch syndrome (2-3%)
– Often not polyps but can have and still increased cancer risk
•
Seldom in:
– Bloom, hereditary diffuse gastric cancer syndrome, and Li-Fraumeni
20. LI-FRAUMENI SYNDROME
•
Prevalence: Up to 1 in 20,000
•
Inheritance: Autosomal dominant
•
Gene: TP53
•
Lifetime risk of cancer:
– 50% by age 30-35y
– 90% by 60y
– Female lifetime risk is 90%
– Male lifetime risk is 70%
– 57% risk of a second primary
21. LFS- DIAGNOSTIC CRITERIA
•
Proband with sarcoma <45yoa
•
First-degree relative with any cancer <45yoa
•
First- or second-degree relative with any cancer <45yoa or sarcoma at any age
•
LFS-related cancers include:
– Breast cancer
• Most common LFS-related cancer
• Lifetime risk 49%
• <1% overall of total breast cancers; however, more likely with diagnosis <30yoa (up
to 7%)
• More likely to be triple positive
– Soft tissue and bone sarcomas
– Brain tumors Choroid plexus tumors
– Adrenocortical carcinoma
– Leukemia
– Bronchoalveolar cancer
LFS accounts for 80% of childhood ACC
22. PTEN HAMARTOMA SYNDROME
• Prevalence: 1 in 200-250,000
• Inheritance: Autosomal dominant
• Gene: PTEN
Planchon S M et al. J Cell Sci 2008;121:249-253
23. PTEN HAMARTOMATOUS
SYNDROME
•
25-85% lifetime risk of breast cancer
– <1% overall of all breast cancer
– Average age of diagnosis 38-46y
•
5-28% lifetime risk of endometrial cancer
•
3-35% lifetime risk of non-medullary thyroid (follicular) cancer
•
40-93% lifetime risk of polyps (hamartomatous)
– 9% lifetime risk of CRC
– Ganglioneuroma
– 13% of PTEN mutation-associated Cowden
syndrome patients developed CRC <50yoa
•
Strongly a/w Lhermitte-Duclos (dysplastic gangliocytoma)
•
May also be associated with renal cancer and melanoma
25. BREAST CANCER- WHEN TO
REFER
•
•
Breast cancer <50yoa
Triple negative breast cancer
– 11-28% have BRCA1 mutations
•
Two breast cancer primaries in a single individual
– ~30% risk of second primary in 10 years for
BRCA1/2
•
•
Breast or ovarian cancer at any age in those of Ashkenazi Jewish
ancestry
Breast cancer at any age and…
– ≥1 close relative* with breast cancer <50yoa
– ≥1 close relative* with epithelial ovarian cancer at
any age
– ≥2 close relatives* with breast cancer and/or
pancreatic cancer at any age
26. ( WHEN TO REFER (2
•
A combination of breast cancer with one or more of the following in close relatives:
– Thyroid cancer
– Sarcoma
– Endometrial cancer
– Pancreatic cancer
– Brain tumors
– Diffuse gastric cancer
– Dermatologic manifestations and/or macrocephaly
– Leukemia/lymphoma
•
Ovarian cancer with a family history of breast and/or ovarian cancer
•
Male breast cancer
– 4-14% due to BRCA2
27. LYNCH SYNDROME
•
A.k.a. hereditary nonpolyposis colorectal cancer; includes Muir-Torre
(sebaceous adenomas)
•
Incidence: 1 in 440
•
Accounts for:
MSH6
– 2-10% of all CRC
MSH2
– 2% of ovarian cancers
– 2-5% of endometrial
• 9-20% of those <50y
•
Autosomal dominant
•
Multiple genes (MLH1, MSH2, MSH6,
PMS1
MSH3, PMS1, PMS2, TACS (EPCAM), TD1)
Chr 2
28. LYNCH SYNDROME- CANCER
RISKS
•
22-92% lifetime risk of CRC
– Mean age of 44yo (MLH1 or MSH2)
•
6-19% lifetime risk of gastric cancer
– More common in Japan
•
20-70% risk of endometrial cancer
– MSI-IHC testing recommended
•
•
•
•
4-12% risk of ovarian cancer
18% hepatobiliary
5-10% urinary tract cancers
May also develop:
– Small bowel, pancreatic cancer
– Skin: (sebaceous carcinomas, keratocanthomas,
and epitheliomas)
– Brain tumors, especially glioblastoma
29. LYNCH SYNDROME- AMSTERDAM
II
• Amsterdam II criteria (all have to be
met):
– ≥3 family members, one of whom is a firstdegree relative of the other two, with
HNPCC-related
cancers
(CRC,
endometrial, stomach, small bowel,
hepatobiliary, renal pelvic, or ureteral
cancer)
– Two successive generations
– One or more HNPCC-related
diagnosed before 50yoa
cancer
30. LYNCH SYNDROME- BETHESDA
• Modified Bethesda
following):
criteria
(any
of
the
– CRC diagnosed <50yoa
– Presence of synchronous or metachronus CRC, or
other HNPCC-related tumors (CRC, endometrial,
gastric, ovarian, pancreatic, ureteral, biliary tract and
brain tumor) regardless of age
– CRC with microsatellite instability-high <60yoa
– CRC in ≥1 first-degree relatives with HNPCC-related
tumor with one cancer <50yoa
– CRC in ≥2 first- or second-degree relatives at any age
31. LYNCH SYNDROME- MSI
• Microsatellite instability
– Microsatellites are highly-repetitive DNA
sequence
– Susceptible to dynamic changes if not for
the mismatch repair genes
• MSI-high= instability >30% of cells
• MSI-low= instability <30% of cells
• MSI stable= no evidence of MSI
32. LYNCH- MSI CAVEATS
• 90% of inherited tumors are MSI-high
• MSI-high can be caused by many somatic (not
inherited)
events,
most
notably
BRAF
methylation/mutation
• Some Lynch syndrome patients will have MSI-low or
MSI-stable testing
• Immunohistochemistry for mismatch repair proteins
(MLH1, MSH2, MSH6, PMS1, PMS2) recommended
as adjunctive analysis
33. LYNCH- GENETIC
TESTING
• If met Amsterdam II criteria, recommend genetic
testing
• If met Bethesda, testing of the tumor sample by
MSI/IHC recommended initially with consideration of
genetic testing
• If MSI-high and IHC positive (i.e. absence of one of
the proteins) the probability of Lynch is high therefore
genetic testing recommended
34. FAMILIAL ADENOMATOUS
POLYPOSIS
•
A.k.a Turcot or Gardner syndromes
•
1 in 6-20,000 live births
•
Due to genetic defect in APC
– If negative, consider MYH
testing
•
Accounts for <1% of all CRC
•
Hallmark is the adenomatous polyposis
– 20-100% penetrance in the
duodenum
•
100% lifetime risk of CRC with average
age of cancer diagnosis of 39y
35. FAP: AGE AND DEVELOPMENT
OF ADENOMAS AND CRC
100
% of patients
with neoplasia
FAP
Adenomas
80
CRC
60
40
General population
20
0
20
40
Age
60
80
36. FAP- ASSOCIATED RISKS
•
4-12% lifetime risk of other intestinal cancers
– 0.5-2% gastric
– 5% duodenal
•
1-2% risk of pancreatic and non-medullary thyroid
•
0.6% risk of hepatoblastoma before 6yoa with 1-2% lifetime
•
10-30% lifetime risk of desmoid tumors
•
Also a/w medulloblastoma as well as gliomas and ependymoma
•
CHRPE- congenital hypertrophy of the retinal pigmented epithelium
37. PEUTZ-JEGHERS SYNDROME
•
•
•
•
•
Prevalence: 1 in 25-280,000
Inheritance: Autosomal dominant
Gene: STK11
Hamartomatous and adenomatous polyposis especially
of the small intestine
37-93% lifetime risk of cancer
– 38-66% risk of gastrointestinal
•
•
29% gastric
•
–
–
–
–
2-39% CRC
11-36% pancreatic
30-54% risk of breast cancer
Lifetime uterine cancer risk is 9-21%
Lung 15% lifetime risk
Includes ovarian and sex cord tumors
Labial and oral mucosal
hyperpigmentation- may
fade with time