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Article

A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.

Familial cancer - 1 Jun 2011

Kwong Ava, Ng Enders K O, Tang Edmund Y H, Wong Chris L P, Law Fian B F, Leung Candy P H, Chan Aaron, Cheung M T, To M Y, Ma Edmond S K, West Dee W, Ford James M

Abstract excerpt

Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting...

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Source

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Identifiers

PMID: 21404118
DOI: 10.1007/s10689-011-9429-y
PMCID: PMC3100488

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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