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Article

Challenges in Interpreting Germline Mutations in BARD1 and ATM in Breast and Ovarian Cancer Patients.

The breast journal - 1 Jul 2017

DeLeonardis Kimberly, Sedgwick Kristin, Voznesensky Olga, Matloff Ellen, Hofstatter Erin, Balk Steven, Tung Nadine

Abstract excerpt

Next-generation sequencing promotes identification of mutations in non-BRCA1/2 genes in hereditary cancer families. The contribution of mutations in moderate penetrance genes to hereditary cancer risk is not well established. Here, we report a family with early onset breast and fallopian tube cancer that was identified as carrying germline mutations in BARD1 and ATM genes. Loss of heterozygosity studies suggest a...

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Source

Identifiers

PMID: 28139868
DOI: 10.1111/tbj.12764

Genes

ATM
BARD1
BRCA1

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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