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Article

Whole-exome sequencing of Finnish hereditary breast cancer families.

European journal of human genetics : EJHG - 1 Jan 2016

Määttä Kirsi, Rantapero Tommi, Lindström Anna, Nykter Matti, Kankuri-Tammilehto Minna, Laasanen Satu-Leena, Schleutker Johanna

Abstract excerpt

A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect variants contributing to BC susceptibility. After filtering, 18 candidate variants in DNA damage response (DDR) pathway genes were screened in 129 female HBOC patients,...

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Source

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Identifiers

PMID: 27782108
DOI: 10.1038/ejhg.2016.141
PMCID: PMC5159774

Genes

BRCA1
ATM
MYC
PLAU
RAD1
RAD50

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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