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Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

HGG advances - 18 Jul 2024

Plowman Jocelyn N, Matoy Evanjalina J, Uppala Lavanya V, Draves Samantha B, Watson Cynthia J, Sefranek Bridget A, Stacey Mark L, Anderson Samuel P, Belshan Michael A, Blue Elizabeth E, Huff Chad D, Fu Yusi, Stessman Holly A F

Abstract excerpt

Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%-25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, and further sequencing studies were rarely offered after negative results. In this study, we applied an efficient and inexpensive targeted sequencing approach to provide...

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Identifiers

PMID: 38734904
DOI: 10.1016/j.xhgg.2024.100306
PMCID: PMC11166883

Genes

BRCA1
BRCA2
CHEK2
MSH6
PMS2
TP53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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