BRCA – Importance in Hereditary Breast & Ovarian CancerLifecare Centre
BRCA – Importance in Hereditary
Breast & Ovarian Cancer
DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
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.
BRCA – Importance in Hereditary Breast & Ovarian CancerLifecare Centre
BRCA – Importance in Hereditary
Breast & Ovarian Cancer
DGF & WOW India
presentation was made by
Dr Sharda Jain
based on presentation made by
Dr Sunil Tadepalli
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.
Each January, the best and brightest minds in colorectal cancer research meet at the Gastrointestinal Cancers Symposium. Fight Colorectal Cancer and the Colon Cancer Alliance are partnering to bring you the big news in colorectal cancer from the 2013 symposium.
Join us to learn more about these topics:
- Can aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) keep cancer from returning?
- The relationship of body mass index (BMI) and exercise in colorectal cancer
- What scientists are learning about how your immune system can fight cancer
- The latest on what biomarkers can tell us about your cancer
- Rectal cancer treatment that is based on your biological make-up
The webinar will be led by Dr. Richard Goldberg, an internationally renowned gastrointestinal oncologist who specializes in colorectal cancer. He is a tenured professor in the Department of Internal Medicine at The Ohio State University and serves as physician-in-chief at Ohio State’s Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).
A diagnosis of DCIS often brings mixed messages. Is this a real breast cancer? What is the meaning of Stage 0? If this is not life threatening, why are the treatments similar to those recommended for an invasive cancer? Deborah Collyar, founder of Patient Advocates in Research, helps us interpret the new findings that will aid you in navigating this diagnosis.
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Each January, the best and brightest minds in colorectal cancer research meet at the Gastrointestinal Cancers Symposium. Fight Colorectal Cancer and the Colon Cancer Alliance are partnering to bring you the big news in colorectal cancer from the 2013 symposium.
Join us to learn more about these topics:
- Can aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) keep cancer from returning?
- The relationship of body mass index (BMI) and exercise in colorectal cancer
- What scientists are learning about how your immune system can fight cancer
- The latest on what biomarkers can tell us about your cancer
- Rectal cancer treatment that is based on your biological make-up
The webinar will be led by Dr. Richard Goldberg, an internationally renowned gastrointestinal oncologist who specializes in colorectal cancer. He is a tenured professor in the Department of Internal Medicine at The Ohio State University and serves as physician-in-chief at Ohio State’s Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).
A diagnosis of DCIS often brings mixed messages. Is this a real breast cancer? What is the meaning of Stage 0? If this is not life threatening, why are the treatments similar to those recommended for an invasive cancer? Deborah Collyar, founder of Patient Advocates in Research, helps us interpret the new findings that will aid you in navigating this diagnosis.
Report Back from SGO 2023: What’s New in Cervical Cancer?bkling
Curious about what’s new in cervical cancer research? Join Dr. Evelyn Cantillo, gynecologic oncologist at Weill Cornell Medicine, as she shares the latest updates from the Society of Gynecologic Oncology (SGO) 2023 Annual Meeting on Women’s Cancer. Dr. Cantillo will also highlight what the research presented at the conference means for you and answer your questions about the new developments.
Report Back from SGO 2023: What’s New in Ovarian Cancer?bkling
Curious about what’s new in ovarian cancer research? Join Dr. Dineo Khabele, Mitchell & Elaine Yanow Professor and Chair of the Department of Obstetrics & Gynecology at Washington University School of Medicine, as she shares the latest updates from the Society of Gynecologic Oncology (SGO) Annual Meeting on Women’s Cancer. Dr. Khabele will also highlight what the research presented at the conference means for you and answer your questions about the new developments.
Ohio State's ASH Review 2017 - Myeloproliferative DisordersOSUCCC - James
Katherine Walsh, MD
Assistant Professor of Clinical Internal Medicine
The Ohio State University Comprehensive Cancer Center -
Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
People with Lynch syndrome have a higher risk of certain types of cancer, including endometrial, colorectal, and ovarian cancers. Heather Hampel, MS, CGC, Associate Director of the Division of Genetics and Genetic Counseling at City of Hope, will discuss genetic testing, hereditary cancer risk, prevention, and the latest updates for Lynch syndrome care.
How general internists can participate in the continuum of care for patients with cancer. (Talk given at Internal Medicine Grand Rounds, St. Elizabeth Hospital, General Santos City, 10 Feb 2021.)
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.
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Join Dr. Bhavana Pothuri, gynecologic oncologist at NYU Langone Medical Center, as she breaks down the different types of uterine cancer treatments available to patients based on their particular diagnosis. Learn about new research and treatment updates, options for when cancer recurs, side effects, and more.
Downloadable slides highlighting key concepts in colorectal cancer screening and appropriate therapy selection and application in the adjuvant setting and beyond.
Similar to Familial predisposition for colorectal cancers: Who to screen? (20)
Ohio State's ASH Review 2017 - Blood and Marrow TransplantationOSUCCC - James
Basem M. William, MD, MRCP(UK), FACP
Assistant Professor of Internal Medicine
Blood and Marrow Transplant Program
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Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
Ohio State's ASH Review 2017 - Benign HematologyOSUCCC - James
Spero R. Cataland, MD
Professor of Clinical Internal Medicine
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Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
Ohio State's ASH Review 2017 - Update in MyelomaOSUCCC - James
Don M. Benson Jr., MD, PhD, FACP
Associate Professor of Medicine
Head of Translational Research
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Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
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Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
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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.
Familial predisposition for colorectal cancers: Who to screen?
1. The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
Familial predisposition for colorectal
cancers: Who to screen?
Peter P. Stanich, MD
Division of Gastroenterology, Hepatology & Nutrition
4.9.2016
2. • Genetics Clinic Overview
• Who to screen with CRC
• Who to screen with polyps
• How to screen everyone
Outline
2
3. Genetic counseling
Cancer genetics appointments are about 90 min
They include:
1. Review of clinical history (personal and family)
2. Differential diagnosis
3. Discussion of pros/cons of genetic testing
4. Ordering, drawing and routing of genetic testing if indicated and patient
provides informed consent (with knowledge of insurance and lab rules)
5. Perhaps most importantly post-result counseling
4. Genetic counseling
Benefits of genetic counseling and testing:
Accurate counseling for patients of risks for cancers (both
another colon cancer as well as other cancers)
Predictive testing of at risk family members
*If positive, prevent colon cancer through screening!
*If negative, save patient from a lot of colonoscopies!
Federal laws protecting against employment or health
insurance discrimination
5. Genetic testing
Consists of single blood draw or mouthwash kit performed
during visit
Can now test for multiple genes (even 70+) if needed for
same cost
Labs have guaranteed maximum out of pocket costs and
often as little as $100 independent of insurance coverage
6. Why are hereditary colorectal cancer syndromes important?
6
Lynch Syndrome
7. Who to screen?
Everyone with colon cancer and high risk personal or family
history?
Everyone with colon cancer?
Everyone with a family history of colon cancer?
Eventual answer… maybe everyone.
The hard part is how? And what type of screening?
7
8. Screen patients with CRC
High risk personal history
High risk family history
Abnormal tumor testing
8
9. When to refer to Genetics?
9
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
10. When to refer to Genetics?
10
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
11. High risk personal history
Prevalence of Lynch syndrome among early onset CRC
patients (from highly selected patient populations)
8.4% dx <50 1,2
12% dx <35 3
13.6% dx <50 4
Prevalence of other cancer syndromes among early onset
CRC patients (from highly selected patient populations)
4% dx <50 4
11% dx <35 3
11
1Hampel et al. New Engl J Med 2005; 352:1851-60
2Hampel et al. J Clin Oncol 2008; 26:5783-88
3Mork et al. J Clin Oncol 2015; 33
4Yurgelun et al. Gastroenterology 2015; 149:604-613
12. Ohio Colon Cancer Prevention Initiative
All patients with CRC resection in OH in 2013 – 2016 are
eligible
Free testing and counseling for patients and if mutation
identified for their at-risk relatives
13. Ohio Colorectal Cancer Prevention Initiative (OCCPI)
Statewide initiative
began 1/1/2013
Establish prevalence of
hereditary CRC in Ohio
Increase colonoscopy
compliance among
relatives
Establish research
infrastructure
50 collaborating hospitals
13
Ohio
Columbus
Cleveland
Cincinnati
Toledo
Dayton
Akron
14. OCCPI data
365 Ohioans under 50 with CRC in the study
53 (14.5%) had at least 1 clinically actionable mutations
8.5% Lynch syndrome
5.5% other syndrome (including 6 with BRCA1/2!)
0.5% 2 syndromes (PMS2 and APC mutation)
If only targeted-testing had been performed, 17 (31%) would
have been missed
All early-onset CRC patients should be referred for genetic
testing with a comprehensive hereditary cancer gene panel.
14
Pearlman et al. Personal Communication.
Overall OCCPI data to this point:
2601 CRC patients enrolled
Lynch: 3.7%
Other hereditary syndromes: 2.2%
Stay tuned for updated recommendations on who
needs referred based on this data
15. When to refer to Genetics?
15
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
16. Lynch syndrome
Amsterdam II Criteria
The 3-2-1 rule
*Many would also include ovary, stomach, HB
and brain
Giardiello et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A
Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. AJG 2014.
17. Oncologists and family history
Difficult to obtain family history during busy office visits
CRC lagging behind breast cancer…
17
Wood et al. Quality of Cancer Family History and Referral for Genetic Counseling
and Testing Amoung Oncology Practices. JCO 2014.
18. Oncologists and family history
Furthermore, lower percentage of increased risk
for hereditary CRC are referred…
18
Wood et al. Quality of Cancer Family History and Referral for Genetic Counseling
and Testing Amoung Oncology Practices. JCO 2014.
19. Oncologists and family history
Gold standard for Genetics: 3 generations
Goal for Oncologists: 2 generations
19
Lu et al. ASCO Expert Statement: Collection and Use of a cancer Family
History for Oncology Providers. JCO 2014.
20. High risk personal and family history
There are clinical predictive models available
*If concerned, recommend Genetics referral for providers with
expertise and most importantly time!
http://premm.dfci.harvard.edu/
21. Lynch syndrome
Previously labeled “hereditary non-polyposis colorectal
cancer” in past, but this is vague and potentially misleading
De novo mutations rare (2.3%), or less likely than paternal
discrepancy (3.7%) [Win, J Med Genet. 2011 and Bellis, J Epidemiol Community
Health 2005]
22. Clinical manifestations of Lynch syndrome
Development of colorectal and extracolonic malignancies at
young ages
23. Lynch syndrome
There is rapid progression from adenoma to CRC in
comparison to accepted 10-15 year interval for sporadic
polyps
Edelstein et al. Rapid development of colorectal neoplasia in patients with Lynch
syndrome. Clin Gastroenterol Hepatol. 2011 Apr;9(4):340-3.
25. Clinical care of Lynch patients
Large-scale surveillance programs have achieved a 62 %
reduction in incidence of CRC and a 65–70 % decrease in
mortality. (Fam Cancer. 2013 Jun;12(2):261-5.)
26. When to refer to Genetics?
26
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
27. Tumor testing
Revised Bethesda Criteria: meant to identify candidates for
tumor testing
Giardiello et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A
Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. AJG 2014.
28. Tumor testing
Bethesda criteria misses 28% of Lynch syndrome
Why Bethesda criteria is often inadequate…
Family size shrinking
Success of CRC screening in decreasing cancer incidence
Difficulty obtaining full family history in busy clinical setting
Giardiello et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A
Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. AJG 2014.
29. Colorectal (and Endometrial) tumor testing
OSU, USMSTF and NCCN favor universal tumor testing:
1. Greater sensitivity for the identification of Lynch syndrome
compared with multiple alternative strategies
2. Cost-effectiveness ratio comparable to other accepted
preventive services (e.g., colonoscopy for average risk
patients)
Hampel H. Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer.
JNCCN 2010.
Moreira L. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 2012.
30. Tumor testing
Immunohistochemistry (IHC) is our standard test at OSU
More commonly performed in US centers
Utilizes antibodies to the Lynch genes
Absence of staining is abnormal
31. Mismatch Repair Immunohistochemistry
Normally present
If protein absent, gene
not being expressed
(mutation/methylation)
Benefit over MSI testing
is this can direct gene
testing by predicting
likely involved gene
MSH2MLH1
MSH6PMS2
32. MLH1 & PMS2 Absent
15% of the time if
CRC is MSI
80% acquired
methylation of MLH1
20% will be LS
Reflex to test for
BRAF or MLH1
hypermethylation to
clarify
MLH-1 MSH-2
MSH-6 PMS-2
*If BRAF mutation or MLH1 hypermethylation positive,
tumor is sporadic and no further testing needed.
33. MSH2 & MSH6 Absent
3% of the time if
CRC is MSI
Most likely LS due
to MSH2 (MSH6
or EPCAM less
likely) gene
mutation
MLH-1 MSH-2
PMS-2MSH-6
34. MSH6 Absent
1% of the time if
CRC is MSI
Most likely LS due
to an MSH6 gene
mutation
MLH-1 MSH-2
MSH-6 PMS-2
35. PMS2 Absent
1% of the time if
CRC is MSI
Most likely LS due
to a PMS2 gene
mutation
MLH-1 MSH-2
MSH-6 PMS-2
36. Tumor testing
Which is better initial test – MSI or IHC?
Pro of IHC – Faster, Can direct genetic testing to a specific gene, better detection of PMS2 and MSH6
Con of IHC – Operator and lab dependent, who refers for counseling/testing after result?
Pro of MSI – May affect Onc plans for chemotherapy
Con of MSI – Not available in most labs, Does not direct genetic testing, increased need for 2nd tests
(IHC and/or BRAF and/or hypermethylation and/or genetic)
Giardiello et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A
Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. AJG 2014.
37. Tumor testing
Don’t need to memorize, but remember where to look for this (NCCN
guidelines)
If any question, refer to Genetics
38. Case
70 year old female with IC valve mass and hepatic flexure
large 2.5 cm polyp
Mother had CRC at 65 and maternal Aunt with CRC at 55
41. When to refer to Genetics?
41
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the National
Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2014.
42. The text box should line up with the right side of the
logo. White text is preferable with the black
background.
• Bullet point one
• Bullet point two
• Bullet point three
43. PTEN hamartoma tumor syndrome (AKA Cowden
syndrome)
Increased risk for CRC (newly described, SIR 10)
Recommend colonoscopy at age 35
High risk of other cancers with standardized incidence ratio included:
Breast cancer – 25 (example of SIR: expected 2.6 in cohort, had 67)
Thyroid cancer - 52
Endometrial – 43
Kidney – 30
Melanoma – 8.5
43 Tan et al. AACR 2012.
44. Cowden syndrome clinical
manifestations:
• Skin and oral findings are
pathognomic and most common:
1. Trichilemommas – hair follicle
hamartomas
Brownstein et al. Tichilemmomas in Cowden’s disease. JAMA 1977.
PTEN hamartoma tumor syndrome
45. 2. Acral keratoses – papules on hands and feet
3. Facial papules and mucocutaneous papilloma –
often form cobblestone appearance
Stanich et al. CGH 2011.
PTEN hamartoma tumor syndrome
46. When to refer to Genetics?
46
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
47. Li Fraumeni syndrome
47
Villani et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome:
a prospective observational study. Lancet Oncol 2011.
48. When to refer to Genetics?
48
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
49. Flowchart for Hereditary Colon Cancer Differential Diagnosis
Presence of
>10 polyps
Type of polyps
- Lynch syndrome
- Familial Colorectal Cancer
syndrome type X
- Peutz-Jeghers syndrome
- Juvenile Polyposis
- Cowden syndrome
-Serrated Polyposis syndrome
-Hereditary mixed polyposis syndrome
- Familial Adenomatous Polyposis
-MYH-Associated Polyposis
- Polymerase Proofreading-Associated
Polyposis
NoYes
AdenomatousOther
Presence of
>10 adenomas or
non-adenomatous polyps
51. When to refer to Genetics?
Can we diagnose patients before they develop colon
cancer?
52. When to refer to Genetics?
52
Hampel et al. A practice guideline from the American College of Medical Genetics and Genomics and the
National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med.
2014.
53. Pre-endoscopy history questionnaire
A simple and validated risk assessment tool to identify high
risk patients for hereditary colon cancer syndromes
The questions identified 77 % of high-risk individuals in
large cohorts (Brigham and MN GI) and 95% of Lynch
mutation carriers (Commercial lab database).
Also endorsed by USMSTF Lynch syndrome guidelines
(published 2014)
Kastrinos et al. Development and validation of a colon cancer risk
assessment tool for patients undergoing colonoscopy. AJG 2009.
55. OSU GI Genetics clinics
Cancer Genetics appointments
Genetic counselor
Genetics physician
- Focused on diagnostics
- Clinical recommendations given with results
Hereditary colon cancer syndrome clinic
- Dr Peter Stanich
- Focused on consultative long term care of patients diagnosed with or
suspected of having an inherited cancer predisposition
- Close collaboration with The James CRC group and Cancer Genetics
55
56. Thank you
I am happy to answer questions
now or in the future
I would love to help arrange any
referrals to Cancer Genetics or GI
as needed
GI office - 614 293 – 6255
Genetics office - 614 293 – 6694
Peter.Stanich@osumc.edu
57. Thank You
To learn more about Ohio State’s cancer
program, please visit cancer.osu.edu or
follow us in social media:
57
58. 12% <1% 85%FAP
Sporadic
MIN (MSI+)
(Microsatellite Instability)
CIN
(Chromosome Instability)
Lynch Sx Sporadic MSI(+)
Germline Mutation
MMR genes
15%
3%
•Epigenetic silencing of
MLH1 by hypermethylation
of its promoter region
85%
Colorectal cancer tumor testing
Germline
Mutation
APC