According to NCCN guidelines, germline testing is recommended in patients (any age) with established PCa and either metastatic, regional (node positive), very high-risk localized, or high-risk localized disease, those with a personal history of breast cancer, as well as by family history in the following scenarios:
≥ 1 first-, second-, or third-degree relative on the same side of the family with:
breast cancer at age ≤ 50 years
colorectal or endometrial cancer at age ≤ 50 years
male (sex assigned at birth) breast cancer at any age
ovarian cancer at any age
exocrine pancreatic cancer at any age
metastatic, regional, very high-risk, or high-risk PCa at any age
≥ 1 first-degree relative (parent or sibling) with:
PCa at age ≤ 60 years
≥ 2 first-, second-, or third-degree relatives on the same side of the family with:
breast cancer at any age
PCa at any age
≥ 3 first- or second-degree relatives on the same side of the family with:
Lynch syndrome-related cancer, especially if diagnosed < 50 years: colorectal, endometrial, gastric, ovarian, exocrine pancreas, upper tract urothelial, glioblastoma, biliary tract, and small intestinal cancer
A known family history of familial cancer risk mutation (pathogenic/likely pathogenic variants), especially in: BRCA1, BRCA2, ATM, PALB2, CHEK2, MLH1, MSH2, MSH6, PMS2, and EPCAM
Ashkenazi Jewish ancestry
Testing may be considered in patients with a personal risk for PCa by prostate tumor characteristics diagnosed at any age OR by PCa AND a prior personal history of any of these cancers: exocrine pancreatic, colorectal, gastric, melanoma, glioblastoma, biliary tract, and small intestinal and upper tract urothelial.
Learn more about the workup of PCa.
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Cite this: Chad R. Tracy. Fast Five Quiz: Prostate Cancer Molecular and Biomarker Analysis - Medscape - Aug 11, 2023.