About this condition
Cancer Genetic Testing — Comprehensive
Approximately 5-10% of all cancers have an identifiable hereditary genetic cause. Over 200 cancer predisposition genes have been identified. Standard commercial panels test 20-80 genes, capturing the most common hereditary cancer syndromes but missing rarer causes. Whole genome sequencing evaluates all known cancer predisposition genes simultaneously — and because it captures the entire genome, new genes discovered in the future can be retrospectively analyzed without re-testing.
Key hereditary cancer syndromes include: hereditary breast-ovarian cancer (BRCA1/2, PALB2, ATM, CHEK2), Lynch syndrome (MLH1, MSH2, MSH6, PMS2 — colorectal, endometrial, ovarian), Li-Fraumeni syndrome (TP53 — multiple cancer types), familial adenomatous polyposis (APC), Cowden syndrome (PTEN), and many others. Each syndrome has specific cancer risks, surveillance protocols, and increasingly, targeted therapies (PARP inhibitors for BRCA, immunotherapy for dMMR/MSI-high).
Cancer genetic testing has evolved from single-gene testing (BRCA only) to multi-gene panels to whole genome sequencing. WGS advantages include: all genes tested simultaneously, structural variants detected (large deletions, rearrangements that panels miss), pharmacogenomic variants for treatment selection (CYP2D6 for tamoxifen metabolism, DPYD for fluoropyrimidine toxicity), and future-proofing (new genes can be analyzed from existing data without re-testing).
Standard panels test 20-80 cancer genes. WGS tests ALL 200+. If your family has unexplained cancer clustering and a panel was 'negative,' WGS may find what the panel missed — including structural variants and rare gene mutations.
- Gene locus
- BRCA1 (17q21.31), BRCA2 (13q13.1), MLH1 (3p21.3), MSH2 (2p21), TP53 (17p13.1), APC (5q22.2), PTEN (10q23.31), and 200+ additional genes
