Slide deck from Caris Life Sciences' Virtual Molecular Tumor Board (VMTB) on December 23rd hosted by Dr. John Marshall at COE network member MedStar Georgetown University Hospital
Caris Centers of Excellence Virtual Molecular Tumor Board - November 19, 2015...Caris Life Sciences
This document summarizes three patient case presentations from a virtual molecular tumor board meeting. It discusses the histories, test results, relevant gene mutations, and potential treatment options for 1) a gastric tumor with FBXW7 and GNAS mutations, 2) a cholangiocarcinoma with a RET mutation, and 3) an EGFR-mutated non-small cell lung cancer. Standard therapies, clinical trial options, and molecular pathways are reviewed for each case.
Caris Centers of Excellence Virtual Molecular Tumor Board - June 29, 2015Caris Life Sciences
1. The document describes four cancer patients whose tumors were analyzed using the Caris Molecular Intelligence Profile.
2. For Patient 1, testing showed a KRAS mutation in the primary tumor but not in metastases initially. Subsequent testing detected the same mutation.
3. For Patient 2, repeat testing showed increased TOP1 expression, suggesting irinotecan may be beneficial.
4. Patient 3's profile revealed mutations predictive of benefit from capecitabine and irinotecan based on biomarker levels.
5. Patient 4 had a mixed germ cell tumor, and profiling favored taxanes as a second-line option based on biomarkers.
Caris Centers of Excellence Virtual Molecular Tumor Board - March 17, 2016 (N...Caris Life Sciences
Slide deck from Caris Life Sciences’ Virtual Molecular Tumor Board (VMTB) hosted by MedStar (Georgetown), a member of the Caris Centers of Excellence for Precision Medicine Network. VMTB reviews cases where the cancer patient’s tumor was sent for molecular profiling and how those results were used to help guide therapy. Personal information has been removed to protect patient privacy.
Caris Centers of Excellence Virtual Molecular Tumor Board - October 15, 2015 ...Caris Life Sciences
Slide deck (no audio) from Caris Life Sciences' Virtual Molecular Tumor Board hosted by COE member MedStar Washington Cancer Institute (Dr. Avani S. Mohapatra)
Caris Centers of Excellence Virtual Molecular Tumor Board - November 19, 2015...Caris Life Sciences
This document summarizes three patient case presentations from a virtual molecular tumor board meeting. It discusses the histories, test results, relevant gene mutations, and potential treatment options for 1) a gastric tumor with FBXW7 and GNAS mutations, 2) a cholangiocarcinoma with a RET mutation, and 3) an EGFR-mutated non-small cell lung cancer. Standard therapies, clinical trial options, and molecular pathways are reviewed for each case.
Caris Centers of Excellence Virtual Molecular Tumor Board - June 29, 2015Caris Life Sciences
1. The document describes four cancer patients whose tumors were analyzed using the Caris Molecular Intelligence Profile.
2. For Patient 1, testing showed a KRAS mutation in the primary tumor but not in metastases initially. Subsequent testing detected the same mutation.
3. For Patient 2, repeat testing showed increased TOP1 expression, suggesting irinotecan may be beneficial.
4. Patient 3's profile revealed mutations predictive of benefit from capecitabine and irinotecan based on biomarker levels.
5. Patient 4 had a mixed germ cell tumor, and profiling favored taxanes as a second-line option based on biomarkers.
Caris Centers of Excellence Virtual Molecular Tumor Board - March 17, 2016 (N...Caris Life Sciences
Slide deck from Caris Life Sciences’ Virtual Molecular Tumor Board (VMTB) hosted by MedStar (Georgetown), a member of the Caris Centers of Excellence for Precision Medicine Network. VMTB reviews cases where the cancer patient’s tumor was sent for molecular profiling and how those results were used to help guide therapy. Personal information has been removed to protect patient privacy.
Caris Centers of Excellence Virtual Molecular Tumor Board - October 15, 2015 ...Caris Life Sciences
Slide deck (no audio) from Caris Life Sciences' Virtual Molecular Tumor Board hosted by COE member MedStar Washington Cancer Institute (Dr. Avani S. Mohapatra)
Caris Centers of Excellence Virtual Molecular Tumor Board - July 13, 2015Caris Life Sciences
This document summarizes the agenda for a virtual multidisciplinary tumor board meeting presented by Edward Kim. The agenda includes discussions of 5 cancer patients, including cases of metastatic gallbladder cancer, NSCLC, bladder cancer, colorectal cancer, and adenoid cystic carcinoma. For each case, the clinical history, pathology, molecular testing results, and potential treatment options will be reviewed and discussed. The goal is to identify the best treatment approaches for each patient based on their specific cancer characteristics and previous treatments.
Caris Centers of Excellence Virtual Molecular Tumor Board - February 23, 2016...Caris Life Sciences
1) This document summarizes discussions from a virtual molecular tumor board meeting hosted by Dr. Lee Schwartzberg on February 23, 2016.
2) The board discussed four cancer patients' cases, reviewing their clinical history, molecular testing results, and potential treatment options based on genetic findings.
3) For the first patient, an MSI-high colon cancer patient, the board recommended checkpoint immunotherapy due to an MSH6 mutation and high mutational load.
Caris Centers of Excellence Virtual Molecular Tumor Board - July 27, 2015Caris Life Sciences
Slide deck from Caris Life Sciences' Virtual Molecular Tumor Board hosted by the COE Network. The July 27th meeting comes from the Barbara Ann Karmanos Cancer Institute.
This document outlines the treatment of advanced/metastatic renal cell carcinoma (RCC). It discusses that nephrectomy may still have a role in metastatic RCC for some patients. Active surveillance is an option for favorable risk metastatic RCC patients. Several trials found no differences between tyrosine kinase inhibitors as first line options for metastatic RCC. Second line options after progression on TKIs include mTOR inhibitors, VEGF inhibitors, and immune checkpoint inhibitors. Recent data supports immune checkpoint inhibitors like nivolumab plus ipilimumab as the new standard of care for first line treatment of metastatic RCC based on improved overall survival compared to sunitinib in clinical trials.
This phase 2 clinical trial evaluated the safety and efficacy of bepirovirsen, an antisense oligonucleotide, for the treatment of chronic hepatitis B. The trial involved 31 participants with chronic hepatitis B who received subcutaneous injections of bepirovirsen or placebo. Treatment with bepirovirsen was found to be generally safe and well tolerated, with mostly mild to moderate adverse events. Bepirovirsen treatment resulted in transient increases in liver enzymes in some participants. Additionally, reductions in hepatitis B surface antigen levels were observed in participants receiving bepirovirsen compared to placebo, suggesting antiviral activity. This trial provides initial evidence supporting further evaluation of bepirovirsen for the treatment of chronic hepatitis
This study examined predictors of contralateral breast cancer in unilateral breast cancer patients undergoing contralateral prophylactic mastectomy (CPM). The study analyzed 542 patients who underwent CPM at one cancer center between 2000-2007. Univariate analysis found that younger age, Gail risk score >1.67%, ipsilateral invasive lobular histology, additional ipsilateral moderate-high risk pathology, and multicentric ipsilateral tumor predicted higher risk of contralateral breast cancer. However, multivariate analysis identified only younger age and ipsilateral invasive lobular histology as independent predictors of contralateral breast cancer. The study aimed to help identify which unilateral breast cancer patients might most benefit from CPM.
This document discusses treatment approaches for ovarian cancer. It notes that surgery followed by platinum-based chemotherapy is the standard first-line treatment. Recent trials show neoadjuvant chemotherapy followed by interval debulking surgery may be an alternative approach with less morbidity. Dose-dense chemotherapy regimens and the addition of targeted therapies like bevacizumab to chemotherapy are also discussed as approaches to improve outcomes. Ongoing trials are further exploring the benefits of intraperitoneal chemotherapy and optimal integration of targeted therapies.
Interstitial cystitis (IC), also known as bladder pain syndrome, is a chronic condition characterized by pelvic pain perceived to be related to the bladder along with urinary symptoms. The cause is multifactorial and likely includes alterations in bladder permeability and neurogenic inflammation. Diagnosis involves ruling out other causes through history, exam, cystoscopy, and urine testing. Treatment is individualized and may include conservative measures, oral medications like amitriptyline, intravesical therapies, minimally invasive procedures, and rarely surgery. Management aims to control symptoms and improve quality of life through a stepwise approach utilizing various options.
This document discusses genetics implications for survivorship programs. It highlights identifying patients who were previously missed for genetic testing and may benefit from re-testing given advances in panel testing. It also reviews managing hereditary cancer risks and addressing the psychosocial issues patients face, such as making difficult medical decisions, informing relatives, and dealing with feelings of guilt. Survivorship programs can help such patients navigate these medical and familial implications.
Second line chemotherapy for ovarian cancerBasalama Ali
This document discusses second line chemotherapy options for ovarian cancer. It defines platinum-sensitive and platinum-resistant disease based on platinum-free interval. For platinum-sensitive disease, retreatment with the same regimen or a combination is recommended over single agent. Bevacizumab added to chemotherapy improves outcomes for platinum-resistant disease. While further lines of therapy can improve survival, patient performance status must be considered.
Second line chemotherapy for ovarian cancerBasalama Ali
The document discusses recurrence and treatment of epithelial ovarian cancer. Relapse is common, occurring in up to 60% of patients, and the platinum-free interval is a predictor of response and prognosis. For platinum-sensitive disease, combination chemotherapy like carboplatin and paclitaxel is superior to single agents for retreatment. For platinum-resistant disease, single agents or adding bevacizumab to chemotherapy can improve survival and response rates. Further lines of chemotherapy are shown to improve survival compared to best supportive care.
Takes Guts to be a Neuroendocrine PatientBill Claxton
perspectives on the importance of raising awareness about NETs as well as the challenges a patient faces, and how the World NET Awareness Day campaign may benefit patients
The document discusses several controversies in treating recurrent ovarian cancer, including:
1) The role of monitoring CA-125 levels and whether chemotherapy should be initiated based on a rising CA-125 alone without other evidence of disease.
2) The potential benefit of secondary cytoreduction surgery for some patients with recurrent disease.
3) Determining optimal treatment approaches for platinum-sensitive versus platinum-resistant recurrent ovarian cancer.
This document provides the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines for Neuroendocrine and Adrenal Tumors. It was last updated in January 2019 and is authored by an expert panel assembled by NCCN. The guidelines provide evidence-based recommendations for diagnosis, staging, treatment and surveillance of neuroendocrine tumors and adrenal tumors. The key updates from the previous version include expanding the name to include adrenal tumors, preferring gallium-68 dotatate PET/CT for somatostatin receptor imaging, and adding peptide receptor radionuclide therapy with lutetium-177 as a treatment option.
This document summarizes information about immunotherapy for non-small cell lung cancer (NSCLC). It provides data on key clinical trials that evaluated immunotherapy drugs like nivolumab and pembrolizumab in previously treated NSCLC. It shows the efficacy results including overall survival benefits from these trials compared to chemotherapy. Long-term survival outcomes are also presented from pooled analyses of nivolumab trials with over 3 years of follow-up data.
Personalized Medicine in Transplantation by Maarten Naesens - at Université L...Maarten Naesens
This document discusses personalized medicine and its application to organ transplantation, with a focus on kidney transplantation. It begins with an overview of personalized and systems medicine, describing how they aim to tailor prevention and treatment to an individual's specific attributes and environmental/biological factors. For kidney transplantation, the document outlines current and novel tools for personalized medicine, including biomarkers derived from omics analyses of blood, urine, and biopsy samples. It also describes the BioMargin project, a large-scale effort involving multiple clinical and analytical centers working to validate biomarker candidates through retrospective and prospective studies. Finally, it contrasts evidence-based and personalized medicine approaches.
This document discusses the components of a cancer genetic counseling session. It describes the process of obtaining a family history, assessing cancer risks, discussing genetic testing options and implications for family members. Key parts of the session include getting informed consent, choosing an appropriate candidate for testing, determining cancer risks, implications for relatives, and making management recommendations even if testing is declined.
This document discusses genetic testing guidelines for breast and ovarian cancer. It provides an overview of current guidelines from organizations like USPSTF, NCCN, ACOG, and NICE. The USPSTF recommends testing only for those with a suggestive family history. NCCN guidelines provide more detailed criteria for testing breast cancer patients. Studies have found a high percentage (around 10%) of Ashkenazi Jewish women with breast cancer carry BRCA mutations, suggesting all such women should undergo genetic testing. Overall, the guidelines are evolving to expand testing to more patients as the therapeutic implications of mutations are better understood.
Caris Centers of Excellence Virtual Molecular Tumor Board - July 13, 2015Caris Life Sciences
This document summarizes the agenda for a virtual multidisciplinary tumor board meeting presented by Edward Kim. The agenda includes discussions of 5 cancer patients, including cases of metastatic gallbladder cancer, NSCLC, bladder cancer, colorectal cancer, and adenoid cystic carcinoma. For each case, the clinical history, pathology, molecular testing results, and potential treatment options will be reviewed and discussed. The goal is to identify the best treatment approaches for each patient based on their specific cancer characteristics and previous treatments.
Caris Centers of Excellence Virtual Molecular Tumor Board - February 23, 2016...Caris Life Sciences
1) This document summarizes discussions from a virtual molecular tumor board meeting hosted by Dr. Lee Schwartzberg on February 23, 2016.
2) The board discussed four cancer patients' cases, reviewing their clinical history, molecular testing results, and potential treatment options based on genetic findings.
3) For the first patient, an MSI-high colon cancer patient, the board recommended checkpoint immunotherapy due to an MSH6 mutation and high mutational load.
Caris Centers of Excellence Virtual Molecular Tumor Board - July 27, 2015Caris Life Sciences
Slide deck from Caris Life Sciences' Virtual Molecular Tumor Board hosted by the COE Network. The July 27th meeting comes from the Barbara Ann Karmanos Cancer Institute.
This document outlines the treatment of advanced/metastatic renal cell carcinoma (RCC). It discusses that nephrectomy may still have a role in metastatic RCC for some patients. Active surveillance is an option for favorable risk metastatic RCC patients. Several trials found no differences between tyrosine kinase inhibitors as first line options for metastatic RCC. Second line options after progression on TKIs include mTOR inhibitors, VEGF inhibitors, and immune checkpoint inhibitors. Recent data supports immune checkpoint inhibitors like nivolumab plus ipilimumab as the new standard of care for first line treatment of metastatic RCC based on improved overall survival compared to sunitinib in clinical trials.
This phase 2 clinical trial evaluated the safety and efficacy of bepirovirsen, an antisense oligonucleotide, for the treatment of chronic hepatitis B. The trial involved 31 participants with chronic hepatitis B who received subcutaneous injections of bepirovirsen or placebo. Treatment with bepirovirsen was found to be generally safe and well tolerated, with mostly mild to moderate adverse events. Bepirovirsen treatment resulted in transient increases in liver enzymes in some participants. Additionally, reductions in hepatitis B surface antigen levels were observed in participants receiving bepirovirsen compared to placebo, suggesting antiviral activity. This trial provides initial evidence supporting further evaluation of bepirovirsen for the treatment of chronic hepatitis
This study examined predictors of contralateral breast cancer in unilateral breast cancer patients undergoing contralateral prophylactic mastectomy (CPM). The study analyzed 542 patients who underwent CPM at one cancer center between 2000-2007. Univariate analysis found that younger age, Gail risk score >1.67%, ipsilateral invasive lobular histology, additional ipsilateral moderate-high risk pathology, and multicentric ipsilateral tumor predicted higher risk of contralateral breast cancer. However, multivariate analysis identified only younger age and ipsilateral invasive lobular histology as independent predictors of contralateral breast cancer. The study aimed to help identify which unilateral breast cancer patients might most benefit from CPM.
This document discusses treatment approaches for ovarian cancer. It notes that surgery followed by platinum-based chemotherapy is the standard first-line treatment. Recent trials show neoadjuvant chemotherapy followed by interval debulking surgery may be an alternative approach with less morbidity. Dose-dense chemotherapy regimens and the addition of targeted therapies like bevacizumab to chemotherapy are also discussed as approaches to improve outcomes. Ongoing trials are further exploring the benefits of intraperitoneal chemotherapy and optimal integration of targeted therapies.
Interstitial cystitis (IC), also known as bladder pain syndrome, is a chronic condition characterized by pelvic pain perceived to be related to the bladder along with urinary symptoms. The cause is multifactorial and likely includes alterations in bladder permeability and neurogenic inflammation. Diagnosis involves ruling out other causes through history, exam, cystoscopy, and urine testing. Treatment is individualized and may include conservative measures, oral medications like amitriptyline, intravesical therapies, minimally invasive procedures, and rarely surgery. Management aims to control symptoms and improve quality of life through a stepwise approach utilizing various options.
This document discusses genetics implications for survivorship programs. It highlights identifying patients who were previously missed for genetic testing and may benefit from re-testing given advances in panel testing. It also reviews managing hereditary cancer risks and addressing the psychosocial issues patients face, such as making difficult medical decisions, informing relatives, and dealing with feelings of guilt. Survivorship programs can help such patients navigate these medical and familial implications.
Second line chemotherapy for ovarian cancerBasalama Ali
This document discusses second line chemotherapy options for ovarian cancer. It defines platinum-sensitive and platinum-resistant disease based on platinum-free interval. For platinum-sensitive disease, retreatment with the same regimen or a combination is recommended over single agent. Bevacizumab added to chemotherapy improves outcomes for platinum-resistant disease. While further lines of therapy can improve survival, patient performance status must be considered.
Second line chemotherapy for ovarian cancerBasalama Ali
The document discusses recurrence and treatment of epithelial ovarian cancer. Relapse is common, occurring in up to 60% of patients, and the platinum-free interval is a predictor of response and prognosis. For platinum-sensitive disease, combination chemotherapy like carboplatin and paclitaxel is superior to single agents for retreatment. For platinum-resistant disease, single agents or adding bevacizumab to chemotherapy can improve survival and response rates. Further lines of chemotherapy are shown to improve survival compared to best supportive care.
Takes Guts to be a Neuroendocrine PatientBill Claxton
perspectives on the importance of raising awareness about NETs as well as the challenges a patient faces, and how the World NET Awareness Day campaign may benefit patients
The document discusses several controversies in treating recurrent ovarian cancer, including:
1) The role of monitoring CA-125 levels and whether chemotherapy should be initiated based on a rising CA-125 alone without other evidence of disease.
2) The potential benefit of secondary cytoreduction surgery for some patients with recurrent disease.
3) Determining optimal treatment approaches for platinum-sensitive versus platinum-resistant recurrent ovarian cancer.
This document provides the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines for Neuroendocrine and Adrenal Tumors. It was last updated in January 2019 and is authored by an expert panel assembled by NCCN. The guidelines provide evidence-based recommendations for diagnosis, staging, treatment and surveillance of neuroendocrine tumors and adrenal tumors. The key updates from the previous version include expanding the name to include adrenal tumors, preferring gallium-68 dotatate PET/CT for somatostatin receptor imaging, and adding peptide receptor radionuclide therapy with lutetium-177 as a treatment option.
This document summarizes information about immunotherapy for non-small cell lung cancer (NSCLC). It provides data on key clinical trials that evaluated immunotherapy drugs like nivolumab and pembrolizumab in previously treated NSCLC. It shows the efficacy results including overall survival benefits from these trials compared to chemotherapy. Long-term survival outcomes are also presented from pooled analyses of nivolumab trials with over 3 years of follow-up data.
Personalized Medicine in Transplantation by Maarten Naesens - at Université L...Maarten Naesens
This document discusses personalized medicine and its application to organ transplantation, with a focus on kidney transplantation. It begins with an overview of personalized and systems medicine, describing how they aim to tailor prevention and treatment to an individual's specific attributes and environmental/biological factors. For kidney transplantation, the document outlines current and novel tools for personalized medicine, including biomarkers derived from omics analyses of blood, urine, and biopsy samples. It also describes the BioMargin project, a large-scale effort involving multiple clinical and analytical centers working to validate biomarker candidates through retrospective and prospective studies. Finally, it contrasts evidence-based and personalized medicine approaches.
This document discusses the components of a cancer genetic counseling session. It describes the process of obtaining a family history, assessing cancer risks, discussing genetic testing options and implications for family members. Key parts of the session include getting informed consent, choosing an appropriate candidate for testing, determining cancer risks, implications for relatives, and making management recommendations even if testing is declined.
This document discusses genetic testing guidelines for breast and ovarian cancer. It provides an overview of current guidelines from organizations like USPSTF, NCCN, ACOG, and NICE. The USPSTF recommends testing only for those with a suggestive family history. NCCN guidelines provide more detailed criteria for testing breast cancer patients. Studies have found a high percentage (around 10%) of Ashkenazi Jewish women with breast cancer carry BRCA mutations, suggesting all such women should undergo genetic testing. Overall, the guidelines are evolving to expand testing to more patients as the therapeutic implications of mutations are better understood.
This document summarizes hereditary cancer syndromes and BRCA mutations. It discusses that most cancers are sporadic, but 5-10% are hereditary due to germline mutations passed down from relatives. Hereditary cancers often occur earlier and increase risk for multiple cancer types. Specific cancer susceptibility genes are discussed, including BRCA1 and BRCA2 mutations which increase lifetime risks of breast and ovarian cancers. Diagnostic testing and management strategies for individuals with BRCA mutations are outlined, including increased cancer screening, risk-reducing surgeries, and lifestyle modifications. Genetic counseling plays an important role in assessing cancer risks and managing hereditary cancer syndromes in families.
Douglas Riegert-Johnson discusses screening and referral for genetic diseases. Primary care providers should obtain a detailed cancer family history including cancer types and ages of diagnosis. Patients meeting certain criteria like breast cancer under age 50 or multiple primaries should be referred for genetic counseling. All colon cancer patients should now undergo tumor testing for Lynch syndrome. Genetic counselors can be located through the National Society of Genetic Counselors website. While genetic testing is advancing, randomized controlled trials are needed to establish clinical utility.
Hereditary Genetics focusing on Prostate Cancerflasco_org
This document discusses genetic testing for prostate cancer and its implications. It summarizes that genetic testing can change screening recommendations, impact treatment of advanced disease, and be life-saving for family members. It provides examples of significant family histories and genetic syndromes that increase prostate cancer risk. Major findings are that 11.8% of men with metastatic prostate cancer had germline DNA repair gene mutations, and that BRCA2 and BRCA1 carriers have higher risks of positive biopsy and poorer prognosis prostate cancer. The document concludes that genetic testing is indicated for those meeting risk criteria to help guide screening and treatment.
This document discusses genetic counseling for cancer risk assessment. It begins with an introduction to Sandra Brown and her role as manager of the Cancer Genetics Program. It then provides information on various genes associated with cancer risks and how damage to these genes can cause uncontrolled growth and malignant tumors. The rest of the document discusses the differences between sporadic, familial, and inherited cancers; the process of genetic counseling before and after genetic testing; recommendations for who should receive genetic counseling; challenges like interpreting results and informing family; and current issues and controversies in cancer genetics.
Presentation by Dr. Wafik El-Deiry on June 4, 2017 entitled "Emerging Complexity of Tumor Heterogeneity and Clinical Practice" at the Tumor and Clinical Heterogeneity Education Session in the Tumor Biology Track at the 2017 ASCO
meeting in Chicago.
This document discusses the components of a cancer genetic counseling session. It begins with precounseling information and contracting to set expectations for the session. The counselor then obtains the family history, assesses cancer risks, discusses DNA testing options, and implications for relatives. The counselor provides surveillance, risk reduction, and treatment options. Follow up involves a letter and potential future sessions. Challenges include psychosocial issues and testing children. The goal is to empower patients through education and support.
Surviving and Thriving with Gynecologic Cancer - 9.7.19Summit Health
Join Gynecologic Oncology and wellness experts for a special "brunch and learn," event for ovarian, cervical and other gynecologic cancer survivors and champions. Speaker-led sessions will cover innovation in treatment and complementary medicine to help manage menopause and other symptoms. Moderated by Darlene Gibbon, MD. FACOG, Medical Director of Gynecologic Oncology.
Other event materials can be found under the Patient Tools tab on this page: https://www.summitmedicalgroup.com/service/gynecological-oncology/
Topic-Driven Round Table on Ovarian Cancer: Understanding Genetics and Ovaria...bkling
Women with ovarian cancer joined Julie Larson, LCSW, guest speaker Dr. Kathryn Pennington of UW Medicine, and peers via video or phone to discuss genetics and ovarian cancer.
The document discusses how genetic testing and targeted therapies have revolutionized the diagnosis and treatment of breast cancer. It describes two cases of women diagnosed with breast cancer and how genetic testing identified a BRCA1 mutation in one family, allowing for increased screening and preventative options. Precision medicine through companion diagnostics now enables targeted therapies that work more precisely with less side effects compared to traditional chemotherapy.
Presentation from Peter Hulick, MD, MMSc, to help nurses and nurse practitioners:
1) Understand the genetic consultation process
2) Examine genetic contribution to breast cancer
3) Identify suggestive family history patterns and risk estimation
4) Influence of genetic testing on management
Taken from a CNE-granting presentation given on 2/17/12 in Highland Park, IL, put together by the Chicago Center for Jewish Genetic Disorders and NorthShore University HealthSystem.
Germline BRCA testing should be offered to breast cancer patients from high-risk groups to inform treatment decisions. A BRCA mutation may indicate higher risk of contralateral breast cancer and eligibility for PARP inhibitors or preventative mastectomy. Test results are categorized on a five-tier system and genetic counseling is recommended when a mutation is found or results are uncertain to discuss implications for treatment and familial risk. Explaining the testing process and potential results helps patients understand their disease.
Microdeletion syndromes are caused by deletions of DNA that are too small to be seen under a microscope but produce distinct sets of symptoms by removing several genes. These deletions can be identified using high-resolution banding or molecular cytogenetic techniques like fluorescence in situ hybridization (FISH). FISH is useful for rapid prenatal screening of common aneuploidies from uncultured amniotic fluid cells within 1-2 days, reducing patient anxiety compared to standard analysis. Comparative genomic hybridization (CGH) identifies any DNA copy number changes across the entire genome in a single test.
Genetic Connections to Breast Cancer - February 14, 2023CHC Connecticut
This document discusses genetic connections to breast cancer. It begins by outlining the learning objectives, which are to understand the importance of collaboration between genetics and non-genetics experts for hereditary breast cancer patients, emphasize obtaining accurate family histories, and discuss benefits and limitations of next generation sequencing panel tests. It then discusses genetic counselors' role in oncology, hereditary cancer risks and patterns, BRCA genes, obtaining family histories, genetic testing options like multi-gene panels, interpreting results, cancer screening recommendations, and prophylactic surgery options. Resources and established risk models are also referenced.
Cancer genetic counseling services provide important benefits for those with and without cancer. Genetic counselors educate patients about their cancer risks, help patients understand genetic testing results, and empower informed decision making. While genetic testing identifies only a small percentage of cancer cases, it allows for targeted treatment and screening that can prevent cancer in families. Expanding access to genetic risk assessment and counseling could help identify more high-risk individuals and families earlier to reduce cancer burden through prevention and early detection strategies.
Audio and slides for this presentation are also available on YouTube: http://youtu.be/ukXhuy5cXrE
Huma Q. Rana, MD, a cancer geneticist with Dana-Farber Cancer Institute, explains the cancer risk associated with BRCA1 and BRCA2 gene mutations. This presentation was originally given on July 23, 2013 as part of the "What Every Woman Should Know" event put on by Dana-Farber's Susan F. Smith Center for Women's Cancers.
Genetic counselling provides information and advice about genetic conditions to help couples understand risks and make decisions. It aims to reduce births of genetically defective babies by educating about hereditary patterns, tests, and management options. Genetic counsellors assess family histories, explain diagnoses and recurrence risks, support decisions, and refer individuals to specialists. Nurses help obtain histories, provide psychological support, educate about conditions, and coordinate care during the counselling process.
Similar to Caris Centers of Excellence Virtual Molecular Tumor Board - December 23, 2015 (No Audio) (20)
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
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Vestibulocochlear Nerve by Dr. Rabia Inam Gandapore.pptx
Caris Centers of Excellence Virtual Molecular Tumor Board - December 23, 2015 (No Audio)
1. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Virtual Molecular Tumor Board
December 23, 2015
Host: MedStar Georgetown University Hospital
Leader: Dr. John Marshall
Cases:
• Lung cancer with BRCA2 mutation
• Colon adenocarcinoma with BRCA2 mutation
2. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Patient 1
3. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
History
• Male, mid-60’s, non-smoker
• Diagnosed with Lung cancer, adenocarcinoma
– Poorly differentiated
– T1N0M1, bony metastases in left ileum
• Bronchoscopy confirmed adenocarcinoma of the lung
• MRI confirms lesions in the left ileum
• Tissue sent for Caris Molecular Intelligence tumor profiling
4. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Pathology
H&E 20x
5. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
6. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
BRCA sequencing results
7. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Germline Testing
8. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Discussion
• Stage 4 lung adenocarcinoma EGFR/ALK/ROS1 negative
• Confirmed germline BRCA2 mutation
– Additional genetic counseling implications
– Lack of typical family history for HBOC
• Treatment:
– Carboplatin/ Alimta/ Avastin
– Radiation to bony metastases
– Denosumab q 6 weeks for bony mets
9. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Raymond et al, JNCI 2016
10. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Recommendations from authors
1. Discuss the possibility of germline findings
when consenting patients for tumor testing
2. Ascertain patient’s wish for disclosure of
germline findings
3. Involve genetic counselors and other
specialists when necessary for interpretation
of somatic sequencing results
Raymond et al, JNCI 2016
11. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Patient 2
12. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
History
• Early 60’s presents with colon mass
– biopsy positive for adenocarcinoma
– Unusual path and presentation and eventual testing showed a
bile duct cancer with spread to the colon
• Initial treatment on c-met gem/cisplatin trial,
immediate SBO requiring surgery.
• SBO/TPN currently treated with gem/cis off study
– some improvement.
• Tissue sent for Caris Molecular Intelligence Profiling
13. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Family history
• No significant history of cancer
• Jewish ancestry
14. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
BRCA2 pathogenic mutation
15. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
CNV analysis
16. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Molecular Tumor Summary
• BRCA2 R2336H, exon 13, pathogenic mutation
• EGFR exon 21 VUS
• KRAS, NRAS, HRAS wildtype
• No gene amplifications
• IHC:
– Predicted response: 5-FU, Taxanes, Cetuximab
– Non-response: Irinotecan
17. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Discussion
• BRCA2 pathogenic mutation
– Genetic counseling?
– Somatic versus germline?
– BRCA1 but not BRCA2 previously reported to have
some elevated colon cancer risk (Phelan et al 2014, BJC).
– More data emerging from expanded germline panel
studies – broader syndrome phenotypes are being
observed
18. The information contained in these slides is provided for educational purposes only and has been permanently de-identified.
Next Molecular Tumor Board:
January 26, 2016
5pm ET (4pm CT)
Host: Fox Chase Cancer Center
Leader: Dr. Namrata Vijayvergia