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Article

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal of medical genetics - 1 Nov 2017

Decker Brennan, Allen Jamie, Luccarini Craig, Pooley Karen A, Shah Mitul, Bolla Manjeet K, Wang Qin, Ahmed Shahana, Baynes Caroline, Conroy Don M, Brown Judith, Luben Robert, Ostrander Elaine A, Pharoah Paul Dp, Dunning Alison M, Easton Douglas F

Abstract excerpt

BACKGROUND: Breast cancer (BC) is the most common malignancy in women and has a major heritable component. The risks associated with most rare susceptibility variants are not well estimated. To better characterise the contribution of variants in ATM, CHEK2, PALB2 and XRCC2, we sequenced their coding regions in 13 087 BC cases and 5488 controls from East Anglia, UK. METHODS: Gene coding regions were enriched via...

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Share to Ataxia Telangiectasia Mutated Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28779002
DOI: 10.1136/jmedgenet-2017-104588
PMCID: PMC5740532

Genes

ATM
CHEK2
PALB2
XRCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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