Download Free Medical Lynch Syndrome LS-Hereditary Non-Polyposis Colorectal Cancer-HNPCC PowerPoint Presentation

Lynch Syndrome LS-Hereditary Non-Polyposis Colorectal Cancer-HNPCC PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Lynch syndrome (LS) - Hereditary Non-polyposis Colorectal Cancer (HNPCC)".
This medical PowerPoint presentation talks about Lynch syndrome (LS), also known as Hereditary Non-polyposis Colorectal Cancer (HNPCC).
Lynch syndrome is an inherited genetic disorder that increases the risk of developing several types of cancer, including colorectal cancer, endometrial cancer, ovarian cancer, stomach cancer, pancreatic cancer, and others.
LS/HNPCC is caused by mutations in genes that are involved in DNA repair, specifically the mismatch repair (MMR) genes. These mutations can lead to the accumulation of DNA errors, which can then cause the development of cancerous cells.

Tags : Lynch syndrome, LS, Hereditary Non-polyposis Colorectal Cancer, HNPCC, inherited genetic disorder

Published on : Mar 27, 2023 | Views : 1759 | Downloads : 0

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Slide 1-

Lynch syndrome (LS)Hereditary Non-polyposis Colorectal Cancer (HNPCC) Developed by Dr. June Carroll , Dr. Judith Allanson, Ms. Shawna Morrison and Ms. Safa Yusuf
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Disclaimer This presentation is for educational purposes only and should not be used as a substitute for clinical judgement. GEC-KO aims to aid the practicing clinician by providing informed opinions regarding genetic services that have been developed in a rigorous and evidence-based manner. Physicians must use their own clinical judgement in addition to published articles and the information presented herein. GEC-KO assumes no responsibility or liability resulting from the use of information contained herein.
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Objectives Following this session the learner will be able to: Refer to their local genetics centre and/or order appropriate genetic testing for Lynch syndrome (LS) Discuss and address patient concerns regarding family history of LS Find high quality genomics educational resources appropriate for primary care We recommend that this module be used in conjunction with more detailed GEC-KO resources including the Lynch syndrome Messenger and on the run.
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What is Lynch Syndrome? Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer, (HNPCC), is an inherited cancer predisposition syndrome Individuals with LS have a greatly increased risk for certain cancers 1 - 3% of CRC is attributable to LS LYNCH SYNDROME-RELATED CANCERS ü Colorectal cancer ü Endometrial ü Kidney ü Gastric ü Ovarian ü Ureter ü Small bowel ü Hepatobiliary ü Pancreatic ü Brain ü Sebaceous (adenoma or carcinoma)
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Five facts about Lynch Syndrome 1. Genetics of Lynch Syndrome Autosomal Dominant Reduced penetrance and variable expressivity not all individuals who inherit a mutation in a LS gene will develop cancer (reduced penetrance) type and onset of cancer will vary between affected family members (variable expressivity) Caused by an inherited mutation in at least one of five mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM) About 1 in 440 individuals are estimated to have a mutation in a Lynch syndrome gene
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1. Genetics of Lynch Syndrome Colorectal cancer (CRC) diagnosis at an early age (<50) – higher suspicion if <35years A CRC diagnosis and one or more 1st degree relatives with a LS-related cancer, with one of the cancers diagnosed <50 yrs Endometrial cancer diagnosis at an early age (<50) Multiple primary LS-related cancer diagnoses, regardless of age Five facts about Lynch Syndrome A CRC diagnosis and two or more 1st or 2nd degree relatives with LS- related cancers regardless of age 2. Who should be offered referral to genetics for possible genetic testing?
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CRC tumor No tumor markers Analysis for tumor markers suggestive of LS Tumor markers No further testing Reflex (automatic) testing of tumors for markers of Lynch Syndrome Genetic testing on blood sample on affected individual
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1. Genetics of Lynch Syndrome Five facts about Lynch Syndrome 3. How is genetic testing done? 2. Who should be offered referral to genetics for possible genetic testing? If possible, the affected individual in the family at highest risk to carry a mutation is offered testing first in order to maximize the likelihood of detecting a mutation This would usually be a young individual with CRC or associated cancer Likely through a LS or CRC genetic testing panel blood test through local Cancer Genetics Centre e.g. MSH1, MSH2, MSH6, PMS2, EPCAM
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Hereditary cancer panel results Negative Positive Variant of Uncertain Significance (VUS) True Negative: familial pathogenic variant not found Uninformative: no known pathogenic variant found Pathogenic or likely pathogenic variant Reassurance Family/personal history based screening Guideline-based screening & management Uninformative: Neither confirms nor rules out hereditary cancer predisposition Family/personal history based screening Periodic reclassification
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1. Genetics of Lynch Syndrome Five facts about Lynch Syndrome 4. What is the significance of a positive genetic test for LS? 2. Who should be offered referral to genetics for possible genetic testing? 3. How is genetic testing done? Increased risk of cancer
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Cancer Risk to Age 70 in Individuals with Lynch Syndrome Compared to General Population
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1. Genetics of Lynch Syndrome Five facts about Lynch Syndrome 5. How might genetic testing benefit your patient? 2. Who should be offered referral to genetics for possible genetic testing? 3. How is genetic testing done? 4. What is the significance of a positive genetic test for LS?
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Five facts about Lynch Syndrome 5. How might genetic testing benefit your patient? Positive result Clarify and stratify family members’ cancer risk Identify at risk family members Clinical intervention may improve outcome Modify cancer surveillance options and age of initial screening True negative result Avoid unnecessary clinical interventions Emotional relief, children can be reassured
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Positive result: Adverse psychological reaction Family issues/distress Uncertainty -incomplete penetrance Intervention may carry risk Discrimination Job, insurance Privacy, confidentiality True negative: Adverse psychological reaction (i.e. survivor guilt) Complacent attitude to health Uncertain result: Complacent attitude to health Uncertainty Continued anxiety Harms or limitations of genetic testing
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For high risk individuals with MLH1 or MSH2 mutations and their first degree relatives who have not had genetic testing: Colon Cancer Colonoscopy every 1-2 years beginning between ages 20 and 25 or 2-5 years prior to the earliest diagnosis if that diagnosis was made before age 25 years, whichever is earlier Endometrial and Ovarian cancer There is no specific screening for endometrial or ovarian cancer Educate women about symptoms of endometrial cancer Prophylactic hysterectomy and bilateral salpingo-oophorectomy is a risk-reducing option that women who have completed childbearing can consider Other Extracolonic cancers Family history dependent Screening and surveillance
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For intermediate risk individuals 1st degree relative with CRC age <60 or Two 1st degree relatives with CRC any age Colonoscopy beginning at age 40 or 10 years younger than earliest diagnosis of CRC 1st degree relative with CRC>60 or 2nd or 3rd degree relatives Colonoscopy beginning age 50 or 10 years younger than earliest dx of CRC Screening and surveillance
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For patients who have a true negative result Provincial guidelines for population risk CRC screening should be followed i.e. Fecal Occult Blood Test every two years from age 50 For patients with an uninformative result or a VUS Recommendations will be based on a combination of factors, such as family history and, in cases where a VUS was identified, information about the VUS Screening and surveillance
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Camille is a 37 year old woman. She is healthy, but reports that her mother was diagnosed in the past year with uterine cancer at age 58. When you take the family history, she tells you her brother had two colon cancers in his 30s and her paternal aunt had breast cancer at age 70. What are the red flags in Camille’s family history about which you should be concerned? Early onset cancer Multiple relatives with the same or associated cancers on the same side of the family Multiple cancer diagnoses in the same person All of the above None of the above
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Camille is a 37 year old woman. She is healthy, but reports that her mother was diagnosed in the past year with uterine cancer at age 58. When you take the family history, she tells you her brother had two colon cancers in his 30s and her paternal aunt had breast cancer at age 70. What are the red flags in Camille’s family history about which you should be concerned? Early onset cancer Multiple relatives with the same or associated cancers on the same side of the family Multiple cancer diagnoses in the same person All of the above None of the above
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Jane is considering genetic testing for Lynch syndrome. Which of the following is true? One of Jane’s relatives with cancer has to have a positive genetic test result before Jane is eligible for provincially funded genetic testing for LS. Jane should have CRC screening with colonoscopy beginning at age 40 regardless of genetic testing. If Jane tests positive for one of the mutations associated with CRC, she will develop endometrial cancer at some point in her life. Jane couldn’t be carrying a mutation for LS because her father hasn’t had cancer. None of the above.
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Jane is considering genetic testing for Lynch syndrome. Which of the following is true? One of Jane’s relatives with cancer has to have a positive genetic test result before Jane is eligible for provincially funded genetic testing for LS. Jane should have CRC screening with colonoscopy beginning at age 40 regardless of genetic testing. If Jane tests positive for one of the mutations associated with CRC, she will develop endometrial cancer at some point in her life. Jane couldn’t be carrying a mutation for LS because her father hasn’t had cancer. None of the above.
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Where do I find more information? www.geneticseducation.ca Check with your local genetics clinic about how testing may be organized