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Article

Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Lee Andrew J, Cunningham Alex P, Tischkowitz Marc, Simard Jacques, Pharoah Paul D, Easton Douglas F, Antoniou Antonis C

Abstract excerpt

PURPOSE: The proliferation of gene panel testing precipitates the need for a breast cancer (BC) risk model that incorporates the effects of mutations in several genes and family history (FH). We extended the BOADICEA model to incorporate the effects of truncating variants in PALB2, CHEK2, and ATM. METHODS: The BC incidence was modeled via the explicit effects of truncating variants in BRCA1/2, PALB2, CHEK2, and...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27464310
DOI: 10.1038/gim.2016.31
PMCID: PMC5086091

Genes

ATM
CHEK2
PALB2
BRCA1
BRCA2

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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