Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

doi:10.1016/j.annonc.2022.09.152

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Article

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Annals of oncology : official journal of the European Society for Medical Oncology - 1 Dec 2022

Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard J W, Barwell J, Berg J, Brady A F, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison P J, Paterson J, Porteous M, Rogers M T, Walker L, Eccles D, Evans D G, Snape K, Hanson H, Houlston R S, Turnbull C

Abstract excerpt

BACKGROUND: Breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional breast cancer susceptibility genes could offer clinical utility. PATIENTS AND METHODS: We included 2135 invasive breast cancer cases recruited via the Breast and Ovarian Cancer Susceptibility...

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Identifiers

PMID: 36122798
DOI: 10.1016/j.annonc.2022.09.152

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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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