Call-on Congress 2014 Heather Hampel: Genetics
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Call-on Congress 2014 Heather Hampel: Genetics

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The role of syndromes and patients and family members. Heather Hampel, MS, CGC, Ohio State University Comprehensive Cancer Center

The role of syndromes and patients and family members. Heather Hampel, MS, CGC, Ohio State University Comprehensive Cancer Center

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Call-on Congress 2014 Heather Hampel: Genetics Call-on Congress 2014 Heather Hampel: Genetics Presentation Transcript

  • Genetics: The role of genetic syndromes in patients & family members Heather Hampel, MS, CGC Professor, Division of Human Genetics November 5, 2011
  • 2 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Most cancers are not inherited 5-10% hereditary10-15% familial 75-85% sporadic
  • 3 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Who is at high risk for cancer? History is the key…
  • 4 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute CLUES: §  Cancer in 2 or more close relatives (on same side of family) §  Early age at diagnosis §  Bilateral/multiple cancers §  Multiple rare cancers §  Multiple primary tumors (breast and ovary; colon and uterus) §  Evidence of autosomal dominant transmission
  • 5 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute CAUTION
  • 6 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family History can be unreliable §  Many people do not know the details of their family history. §  Specific sites of tumors unknown §  Ages of onset unknown §  Historical information needs to be verified in order to accurately assess risk. §  Family size is getting smaller – can “hide” susceptibility §  Increased use of effective screening/prevention options (i.e. colonoscopy) can prevent cancers that would have occurred otherwise
  • 7 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Initial pedigree After review of records Stomach Ca Prostate problems Bone Ca d. 48 Breast Ca dx 45 d. 48 Ovarian Ca dx 43, d. 49 Prostate Ca dx 50
  • 8 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Histories are dynamic §  With the passage of time, additional diagnoses may have been made. §  These changes in diagnosis may affect the likelihood of a hereditary cancer syndrome.
  • 9 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Initial History 2 years later Colon Ca, 50 Colon Ca, 50 Endometrial Ca, 44 Colon polyps, 48
  • 10 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute High Risk Families §  CRC or EC diagnosed under age 50 §  Patients with 2-3 cases of the same or related cancers on the same side of the family §  Patients with multiple primary cancers §  Certain tumors are enough on their own §  Sebaceous adenoma / adenocarcinoma of skin §  Patients with certain pathology findings §  CRC or EC with abnormal IHC or MSI+ testing
  • 11 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Patient & Family Implications: Lynch Syndrome MLH1 PMS2 MSH2 MSH6
  • 12 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Sporadic Inherited •  Later age at onset (60s or 70s) •  Little or no family history of cancer •  Single or unilateral tumors • Early age at onset (<50) • Multiple generations with cancer • Clustering of certain cancers (i.e. breast/ovarian) Normal gene Somatic mutation Somatic mutation Germline mutation Somatic mutation
  • 13 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Autosomal Dominant Inheritance Carrier Parent Non-carrier Parent Aa aa Aa Aa aa aa Carrier Carrier Non-carrier Non-carrier 1/2 1/2
  • 14 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Lynch Syndrome Cancer Risks (to 70) Cancer Lynch syndrome General Public Colon cancer 56-85% 5% Endometrial cancer 35-60% 2% Gastric cancer 13% 1% Ovarian cancer 12% 1.5% Small bowel, bladder, ureter, renal pelvis, brain <4% each <1% each
  • 15 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Lynch syndrome Surveillance Options Lindor N et al. JAMA 2006;296:1507-17. & Vasen HFA et al. J Med Genet 2007;44:353-62. Intervention Recommendation Colonoscopy Every 1-2 y beginning at age 20-25 (MLH1 & MSH2), or 30 (MSH6 & PMS2) Endometrial sampling Every 1 y beginning at age 30-35 Transvaginal U/S Every 1 y beginning at age 30-35 Urinalysis with cytology Every 1-2 y beginning at age 30-35 History & Exam w/ review of systems Every 1 y beginning at age 21
  • 16 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Moderate Risk Families §  1-2 cases of a cancer in the family §  Do not need referral for genetic counseling §  Do need increased cancer surveillance §  Generally the first degree relatives of a person with a cancer are about twice as likely to develop that same cancer than someone without that family history
  • 17 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
  • 18 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Familial Colorectal Cancer Risks Taylor, DP, Gastroenterology 2010;138:877-886.
  • 19 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Familial Colorectal Cancer Screening Recommendations §  FDR diagnosed <50 or 2 FDR dx at any age §  Colonoscopy every 3-5 years beginning at age 40 (or 10 years before earliest dx of CRC §  FDR diagnosed >50 §  Colonoscopy every 5 years beginning at age 50 (or 10 years before earliest dx of CRC §  SDR diagnosed <50 §  Colonoscopy beginning at age 50 repeat depending on findings §  Otherwise follow Average Risk recommendations §  Colonoscopy every 10 years beginning at age 50
  • 20 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family Healthlink §  Interactive web tool that estimates risk by reviewing patterns of cancer and heart disease and related conditions in a family §  10-15 min depending on the size of the family §  No pedigree to view; no updating §  Personalized risk assessment (pdf) to share with healthcare providers https://familyhealthlink.osumc.edu
  • 21 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling
  • 22 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling: Purpose §  Appreciate the way heredity contributes to cancer §  Understand an individual’s risk of developing cancer §  Understand the options for dealing with an increased risk for cancer §  Choose a course of action for managing cancer risk that seems personally appropriate (genetic testing, screening or long-term follow up)
  • 23 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling: What happens §  Collection of personal and family history §  3 generation pedigree §  Education and risk assessment §  Options for genetic testing and medical management §  Discussion of risks, benefits and limitations §  Screening/Chemoprevention/Prophylaxis §  Follow-up §  Provide psychosocial support §  Family members
  • 24 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 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 insurer's or employer's right to request, require, or purchase someone's genetic information.
  • 25 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute 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