Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer – Released September 11th, 2024 (V1.2025)
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Testing Updates:
- Clarified that it is appropriate to test unaffected family members if they meet testing criteria (even if they are not the “best testable”)
- Testing in female breast cancer patients: Consider testing for high penetrance genes in those diagnosed at age 65 or younger (used to be younger than age 60)
- Added guidance about minimal recommended elements to be discussed during ‘Point-of-Care’ testing (as outlined in Eval-A 10 of 11 on Page 17 of the guidelines), in those with active cancer diagnoses and previous history, when testing is performed outside of specialty genetics setting
Gene Updates:
- ATM: Colorectal cancer risk added as an emerging risk; Consider pancreatic cancer screening beginning at age 50 (or 10 years younger than the earliest exocrine pancreatic cancer diagnosis in the family, whichever is earlier), regardless of family history (i.e., family history criteria removed)
- BRCA2: Consider pancreatic cancer screening beginning at age 50 (or 10 years younger than the earliest exocrine pancreatic cancer diagnosis in the family, whichever is earlier), regardless of family history (i.e., family history criteria removed)
- CHEK2: Colorectal cancer risk removed
Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Cancer – Released August 8th, 2024 (V1.2024)
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Guideline name expanded from Colorectal Cancer à Colorectal, Endometrial, and Gastric Cancer
- Endometrial cancer recommendations included throughout
- Hereditary Diffuse Gastric Cancer section added (HGAST-1)
- Gynecologic risk and preventive surgery considerations for those with Lynch Syndrome added
- Use of hormone replacement treatment following premature surgical menopause from risk-reducing oophorectomy added
- CHEK2: Absolute colon cancer risk revised to “NO INCREASED RISK”; thus, general population screening is appropriate for these individuals