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Genetic Hx CRC


Goals for genetic counseling asses Fhx, impact of condition, information, supports, genetic testing, referrals
Who benefits from a genetic counselor fams who have kids w/ birth defects, multiple infant deaths, 35 and older planning preggo, Hx of dz/cancer,
What predisposes CRC >50, close relative w/ CRC, IBD, polyps
What is the majority of CRC d/t sporadic or environmental factors
What does a square with () around it mean? adopted in
Cancer 2 or more close relative (same side), early dx, multiple 1 tumors, bilateral/multiple cancers, constellation of tumors, evidence of autosomal dom. Transmission suspect hereditary cancer syndrome
Features of familial CRC Fhx of CRC w/ no inheritance pattern, age typical of sporadic CRC, multiple causes, few or no adenomas
What are most cancer susceptibility gene pattern Dominant w/ incomplete penetrance
What is FAP? The gene? Familial Adenomatous Polyposis, APC mutation
How does a mutation in APC result in cancer? APC is a tumor suppressor gene, L of Fxn
Syndromes associated w/ adenomas familial adenomatous polyposis, MYH-associated polyposis
Classic sign for FAP 100’s-1000’s adenomatous polyps in 2nd-3rd decade, attenuated: 10-100 polyps
Median age for CRC for ppl with FAP 40, 50-60 w/ attenuated
Inheritance pattern for FAP autosomal dominant
APC testing for suspicion starts 10-12 yo, if found, annual colon exam..
Hereditary non-polyposis Colon Cancer (HNPCC) Lynch Syndrome
High risk for CRC and extracolonic cancers: endometrium, ovary, stomach, UT, sm bowel, bile ducts, sebaceous skin tumors Lynch syndrome
What is the 3-2-1 rule? Amsterdam Criteria for Lynch syndrome 3 or more relative w/ HNPCC, 2 or more generations, one or more lynch related cancers by 50 yo FAP excluded
Screening for lynch syndrome Detects absence or presence of protein products expressed by DNA repair genes (MLH1,2, MSH, PMS2)
Surveillance for those +carriers of lynch genes CRC: colonoscopy Edometrial/ovarian: hysterectomy, Gastric/sm bowel: EGD, or Capsule
Created by: becker15