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Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer
Released August 28th, 2023 (V1.2024)
› Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)
› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added to guide work up and management, based on etiology; colonoscopy recommendation revised; PSA screening (prostate) added; and pediatric cancer screening recommendations added
› PTEN: Mammogram age for females changed from 35 to 30 (Page 61, COWD-A 1 of 2) GENE-A Table (Pages 38-46)
› ATM/CHEK2 Male Carriers: Added consideration of prostate cancer screening starting at age 40
› CHEK2 I157T: Stated that additional cancer risk management solely based on this variant is NOT recommended
› PALB2: Age at which to consider removing ovaries and fallopian tubes (risk-reducing salpingo-oophorectomy) changed from 45 to 45-50; added that for males, consider screening for breast cancer similar to BRCA1 (consider annual mammograms at age 50); and range of pancreatic cancer risk revised to 2-5%
Genetic/Familial High-Risk Assessment: Colorectal Cancer
Released May 30th, 2023 (V1.2023)
› At a minimum, the following colorectal cancer genes should be included on multi-gene panel testing: APC, MUTYH, MLH1, MSH2, MSH6, PMS2, EPCAM, BMPR1A, SMAD4, PTEN, STK11, & TP53
› Addition of MSI/IHC concordance data (see table below)
› Addition of NEW gene/syndrome: MBD4-associated neoplasia syndrome
NTHL1 tumor syndrome (biallelic)
› Breast cancer risks modified: Revised text to indicate risk may be elevated; however, there is not enough data yet to support increased breast cancer surveillance
› Removed: Annual mammogram with consideration of tomosynthesis and consider breast MRI with contrast starting at
age 40 (now aligns with Breast, Ovarian, and Pancreatic guidelines)
› For duodenal cancer: Added baseline upper endoscopy (including complete visualization of the ampulla of Vater) beginning at age 30–35