Welcome!                   Talking Turkey               About Lynch Syndrome        Part of Fight Colorectal Cancer’s Mont...
Fight Colorectal Cancer1. Tonight’s speaker’s: Brian Mansfield, Dr. William Harb, andHeather Hampel2. Archived webinars: L...
Fight Colorectal Cancer              Upcoming 2013 Webinar’s           Advancements in CRC Surgery               Highlight...
Fight Colorectal Cancer             Funding Research Directly                  Lisa Dubow Fundhttp://fightcolorectalcancer...
Fight Colorectal CancerDisclaimerThe information and services provided by Fight ColorectalCancer are for general informati...
Fight Colorectal CancerResourcesTo learn more about Lynch Syndrome   http://fightcolorectalcancer.org/awareness/lynch_syn...
Fight Colorectal Cancer               Patient                 Lynch               Syndrome    Genetics                    ...
Fight Colorectal Cancer      Brian Mansfield
Fight Colorectal CancerTo learn more about Brian’s Story:Downloadable PDF -http://fightcolorectalcancer.org/images/posts/2...
Fight Colorectal Cancer      Dr. William Harb
Talking Turkey about  Lynch Syndrome   Dr. William J. Harb, M.D., FASCRS            Colorectal Surgeon              Nashvi...
 48 year old male presents with a change in his bowel  habits Referred by his internist to a gastroenterologist Undergo...
What next?
 A visit to the colorectal surgeon What do we talk about?     Review of colonoscopy     Review of CT scan     Discuss...
 Genetic testing   Why?   Age under 50   Family history     Often unreliable as in Brian’s case – many physicians wou...
 Brian had genetic testing prior to surgery It actually changed what operation he had!
 He needs colonoscopy every year   Not every 5 years or 3 years   Need to check his stomach   Family members need gene...
Summary Lynch syndrome is not rare   But if you don’t look for it then it won’t be found   We need the help of patients...
Fight Colorectal Cancer     Heather Hampel
Talking Turkey aboutLynch syndromeHeather Hampel, MS, CGC
Causes of Hereditary Susceptibility to                   CRCSporadic(65%–85%)                                             ...
Lynch SyndromeMSH2MSH6                                                                              MLH1PMS2              ...
Sporadic                                                             Inherited                              Normal gene   ...
Autosomal Dominant InheritanceCarrier Parent                                                     Non-carrier Parent    Aa ...
Clinical Features of Lynch syndrome Early but variable age at CRC  diagnosis (~45 years) Tumor site in proximal colon  p...
Lynch Syndrome Cancer Risks (to 70)Cancer               MLH1& MSH2                                                  MSH6  ...
Surveillance Options for Patients withLynch syndromeMalignancy           Intervention                                Recom...
Surveillance Reduces Risk of ColorectalCancer in Lynch syndrome Families         30                                       ...
Prophylactic Surgery Options forPatients with Lynch syndrome Options include subtotal colectomy,  hysterectomy, and oopho...
The Family History is Key to Diagnosing             Lynch syndrome                          CRC                         dx...
Amsterdam Criteria II     3 or more relatives with verified HNPCC-      associated cancers* in family     One case a fir...
Genetic Features of Lynch Syndrome  Genes belong to DNA mismatch repair   (MMR) family  Mutations in MMR genes lead to  ...
Microsatellite Instability (MSI) Repetitive DNA sequences 1- 4 nucleotides  (microsatellites) normally found genome    M...
MSI testing on Genotyper            The Ohio State University Comprehensive Cancer Center –            Arthur G. James Can...
Immunohistochemistry Identify MMR  proteins Normally present If protein is absent,  gene is not being  expressed (mutat...
When to Suspect Hereditary Cancer              SyndromeCancer in 2 or more close relatives     (on same side of family)E...
When Should Genetic Testing Be            Considered? Significant family cancer history Reasonable likelihood of carryin...
GINA Prevents health insurers from denying coverage,  adjusting premiums, or otherwise discriminating on the  basis of ge...
Resources Heather Hampel   614-293-7240   Heather.Hampel@osumc.edu Family HealthLink   https://familyhealthlink.osumc...
Fight Colorectal Cancer               Patient                 Lynch               Syndrome    Genetics                    ...
Fight Colorectal Cancerwww.FightColorectalCancer.org877-427-2111
Fight Colorectal CancerResourcesTo learn more about Lynch Syndrome   http://fightcolorectalcancer.org/awareness/lynch_syn...
Fight Colorectal Cancer                               CONTACT US    Fight Colorectal Cancer      1414 Prince Street, Suite...
Nov 2012 Webinar: Lynch Syndrome
Nov 2012 Webinar: Lynch Syndrome
Nov 2012 Webinar: Lynch Syndrome
Nov 2012 Webinar: Lynch Syndrome
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Nov 2012 Webinar: Lynch Syndrome

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- Were you diagnosed with colon or rectal cancer before the age of 50?
- Was anyone in your family diagnosed with colon cancer before the age of 50?
- Was anyone in your family diagnosed with uterine (endometrial) cancer before the age of 50?
- Are there cancers across several generations on one side of your family?

If you answered YES to just one of these questions, it's time to talk turkey about Lynch syndrome.

Lynch syndrome is an inherited genetic mutation, and having it increases your chance of getting colorectal cancer to 80%. Unfortunately, nearly every person living with Lynch syndrome is completely unaware of it.

Lynch syndrome also puts you at higher risk for brain, breast, kidney, melanoma, ovarian, pancreas, small bowel, stomach, or uterine/endometrial cancers. Knowledge is power and will help your medical team act more aggressively with their screening measures.

Brian Mansfield, a music critic for USA Today, didn't know he had Lynch syndrome until he was diagnosed with colorectal cancer earlier this year at the age of 48. After his diagnosis, he began talking with his family about their health history, "then the family tree lit up like a Christmas tree." Brian is chronicling his journey through a weekly USA Today online column, "My Semicolon Life."

Join national patient advocacy group Fight Colorectal Cancer as we host Brian and his doctor, Dr. Bill Harb, a colorectal surgeon at Cumberland Surgical Associates, along with Associate Director of Human Genetics at Ohio State University Heather Hampel as they tell you more about Lynch syndrome and how to dig into the medical mystery that may be lurking within your family tree. With the holidays coming up, never has there been a more appropriate time to talk turkey...and Lynch syndrome.

**Fight Colorectal Cancer thanks Can't Stomach Cancer, the Colon Club, Kidney Cancer Association, Myriad Genetics, and Ovarian Cancer National Alliance for their assistance with this webinar.**

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Nov 2012 Webinar: Lynch Syndrome

  1. 1. Welcome! Talking Turkey About Lynch Syndrome Part of Fight Colorectal Cancer’s Monthly Patient Webinar Series Our webinar will begin shortlywww.FightColorectalCancer.org877-427-2111
  2. 2. Fight Colorectal Cancer1. Tonight’s speaker’s: Brian Mansfield, Dr. William Harb, andHeather Hampel2. Archived webinars: Link.FightCRC.org/Webinars3. Follow up survey to come via email. Get a free Blue Star ofHope pin when you tell us how we did tonight.4. Ask a question in the panel on the right side of your screen5. Or call the Fight Colorectal Cancer Answer Line at 877-427-2111 www.FightColorectalCancer.org 877-427-2111
  3. 3. Fight Colorectal Cancer Upcoming 2013 Webinar’s Advancements in CRC Surgery Highlights from GI ASCO Highlights from ASCO Management of Peripheral NeuropathyPathways and Targets: How these affect treatment options Molecular Testing and Tumor Tissue Testing Register at www.FightColorectalCancer.org 1-877-427-2111
  4. 4. Fight Colorectal Cancer Funding Research Directly Lisa Dubow Fundhttp://fightcolorectalcancer.org/research/lisa-fund
  5. 5. Fight Colorectal CancerDisclaimerThe information and services provided by Fight ColorectalCancer are for general informational purposes only.The information and services are not intended to be substitutesfor professional medical advice, diagnosis, or treatment.If you are ill, or suspect that you are ill, see a doctorimmediately. In an emergency, call 911 or go to the nearestemergency room.Fight Colorectal Cancer never recommends or endorses anyspecific physicians, products or treatments for any condition.www.FightColorectalCancer.org877-427-2111
  6. 6. Fight Colorectal CancerResourcesTo learn more about Lynch Syndrome http://fightcolorectalcancer.org/awareness/lynch_syndrome5 Questions to Ask your Family at Thanksgiving http://fightcolorectalcancer.org/images/posts/2012/10/5- Questions.pdfIs Lynch Syndrome Lurking in your family worksheet http://fightcolorectalcancer.org/images/posts/2012/10/Lynch- lurking.pdf
  7. 7. Fight Colorectal Cancer Patient Lynch Syndrome Genetics Physician Counselor
  8. 8. Fight Colorectal Cancer Brian Mansfield
  9. 9. Fight Colorectal CancerTo learn more about Brian’s Story:Downloadable PDF -http://fightcolorectalcancer.org/images/posts/2012/10/Lynch-article-FINAL.pdfwww.FightColorectalCancer.org877-427-2111
  10. 10. Fight Colorectal Cancer Dr. William Harb
  11. 11. Talking Turkey about Lynch Syndrome Dr. William J. Harb, M.D., FASCRS Colorectal Surgeon Nashville, TN
  12. 12.  48 year old male presents with a change in his bowel habits Referred by his internist to a gastroenterologist Undergoes colonoscopy Family history?  Maternal great-grandfather had colon cancer  Maternal uncle with colon cancer  Questionable ovarian cancer in paternal grandmother and aunt
  13. 13. What next?
  14. 14.  A visit to the colorectal surgeon What do we talk about?  Review of colonoscopy  Review of CT scan  Discussion of colon anatomy  Discussion of family history
  15. 15.  Genetic testing  Why?  Age under 50  Family history  Often unreliable as in Brian’s case – many physicians would think that maternal great-grandfather and uncle not related closely enough  Ovarian cancer often neglected in family history
  16. 16.  Brian had genetic testing prior to surgery It actually changed what operation he had!
  17. 17.  He needs colonoscopy every year  Not every 5 years or 3 years  Need to check his stomach  Family members need genetic testing  Referral to genetic counselor
  18. 18. Summary Lynch syndrome is not rare  But if you don’t look for it then it won’t be found  We need the help of patients to discuss this with their family and their doctors  We can prevent colon cancer with genetic testing  And we can prevent people like Brian from having to go thru this ordeal  Please talk to your doctors and your family – the holidays are a great time of year to talk about medical history
  19. 19. Fight Colorectal Cancer Heather Hampel
  20. 20. Talking Turkey aboutLynch syndromeHeather Hampel, MS, CGC
  21. 21. Causes of Hereditary Susceptibility to CRCSporadic(65%–85%) Familial (10%–30%) Rare CRC syndromes Lynch syndrome (3%) (<0.1%) Familial adenomatous polyposis (FAP) (1%) Adapted from Burt RW et al. Prevention and Early Detection of CRC, 1996 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 25
  22. 22. Lynch SyndromeMSH2MSH6 MLH1PMS2 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 26
  23. 23. Sporadic Inherited Normal gene Germline mutation Somatic mutation Somatic mutation Somatic mutation• Later age at onset (60s or 70s) •Early age at onset (<50)• Little or no family history of cancer •Multiple generations with cancer• Single or unilateral tumors •Clustering of certain cancers (i.e. breast/ovarian) The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 27
  24. 24. Autosomal Dominant InheritanceCarrier Parent Non-carrier Parent Aa aa Aa Aa aa aa Carrier Carrier Non-carrier Non-carrier 1/2 1/2 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 28
  25. 25. Clinical Features of Lynch syndrome Early but variable age at CRC diagnosis (~45 years) Tumor site in proximal colon predominates Extracolonic cancers: endometrium, ovary, stomach, urinary tract, small bowel, bile ducts, sebaceous skin tumors The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 29
  26. 26. Lynch Syndrome Cancer Risks (to 70)Cancer MLH1& MSH2 MSH6 PMS2♂ Colon cancer 56% - 85% 22% 20%♀ Colon cancer 48% - 85% 10% 15%Endometrial cancer 35% - 64% 26% 15%♂ Other LS cancers 19.3% 3% 6%♀ Other LS cancers 5% 11% 6% The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 30
  27. 27. Surveillance Options for Patients withLynch syndromeMalignancy Intervention RecommendationColorectal cancer Colonoscopy Begin at age 20–25, repeat every 1–2 yearsEndometrial  Transvaginal Annually, starting at cancer ultrasound age 25–35  Endometrial aspirate Lindor NM, et al. JAMA 2006;296(12):1507-1517. The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 31
  28. 28. Surveillance Reduces Risk of ColorectalCancer in Lynch syndrome Families 30 No surveillance % of Surveillance subjects 20with CRC 11.9% 10 4.5% 0 0 3 6 9 Years of follow-up Jarvinen HJ et al. Gastro 108:1405, 1995 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 32
  29. 29. Prophylactic Surgery Options forPatients with Lynch syndrome Options include subtotal colectomy, hysterectomy, and oophorectomy Surgery does not eliminate cancer risk Recent data that hysterectomy with BSO eliminates the risk of endometrial and ovarian cancer in LS patients Schmeler KM, et al. NEJM 2006;354:261-269. The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 33
  30. 30. The Family History is Key to Diagnosing Lynch syndrome CRC dx 50s CRC CRCCRC dx 61 dx 75 Ovariandx 45 Ca, dx 64 CRC CRC Endometrial 45 CRC dx 48 dx 52 Ca, dx 59 dx 42 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 34
  31. 31. Amsterdam Criteria II  3 or more relatives with verified HNPCC- associated cancers* in family  One case a first-degree relative of the other two  Two or more generations  One CRC by age 50  FAP excluded*HNPCC associated cancers: CRC, endometrial, small bowel,ureter, renal pelvis Vasen HFA et al. Gastroenterology 116:1453, 1999 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 35
  32. 32. Genetic Features of Lynch Syndrome  Genes belong to DNA mismatch repair (MMR) family  Mutations in MMR genes lead to microsatellite instability  MMR proteins are missing in the tumor tissue making immunohistochemical staining useful The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 36
  33. 33. Microsatellite Instability (MSI) Repetitive DNA sequences 1- 4 nucleotides (microsatellites) normally found genome  Mono: TCGAGG AAAAAAAA GGAGCT  Di: TCGAGG CACACACACACA GGAG With MMR failure, variability in repeats 90% of HNPCC tumors are MSI+ 10%–15% of sporadic CRCs are MSI+ The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 37
  34. 34. MSI testing on Genotyper The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 38
  35. 35. Immunohistochemistry Identify MMR proteins Normally present If protein is absent, gene is not being expressed (mutation MLH1 MSH2 or methylation) Helps direct gene testing by predicting likely involved gene If abnormal IHC (absent), MSI+ PMS2 The Ohio State University Comprehensive Cancer Center – MSH6 Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 39
  36. 36. When to Suspect Hereditary Cancer SyndromeCancer in 2 or more close relatives (on same side of family)Early age at diagnosisMultiple primary tumorsBilateral or multiple rare cancersConstellation of tumors consistent with specificcancer syndrome (eg, breast and ovary)Evidence of autosomal dominant transmission The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 40
  37. 37. When Should Genetic Testing Be Considered? Significant family cancer history Reasonable likelihood of carrying an alteredcancer susceptibility gene Ideally, test affected person first Results will influence medical management Patient wants information (empowerment) The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 41
  38. 38. GINA Prevents health insurers from denying coverage, adjusting premiums, or otherwise discriminating on the basis of genetic information.  Group and self-insured policies Insurers may not request that an individual undergo a genetic test. Employers cannot use genetic information to make hiring, firing, compensation, or promotion decisions. Sharply limits a health insurers or employers right to request, require, or purchase someones genetic information. The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 42
  39. 39. Resources Heather Hampel  614-293-7240  Heather.Hampel@osumc.edu Family HealthLink  https://familyhealthlink.osumc.edu  Free, on-line tool that assesses family history of cancer and cardiovascular disease Find a Genetic Counselor  www.nsgc.org  www.cancer.gov/cancertopics/gen etics/directory/results The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 43
  40. 40. Fight Colorectal Cancer Patient Lynch Syndrome Genetics Physician Counselor
  41. 41. Fight Colorectal Cancerwww.FightColorectalCancer.org877-427-2111
  42. 42. Fight Colorectal CancerResourcesTo learn more about Lynch Syndrome http://fightcolorectalcancer.org/awareness/lynch_syndrome5 Questions to Ask your Family at Thanksgiving http://fightcolorectalcancer.org/images/posts/2012/10/5- Questions.pdfIs Lynch Syndrome Lurking in your family worksheet http://fightcolorectalcancer.org/images/posts/2012/10/Lynch- lurking.pdf
  43. 43. Fight Colorectal Cancer CONTACT US Fight Colorectal Cancer 1414 Prince Street, Suite 204 Alexandria, VA 22314 (703) 548-1225 Toll-Free Answer Line: 1-877-427-2111 www.FightColorectalCancer.orgEmail us: Info@FightColorectalCancer.org
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