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Article

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.

JAMA oncology - 1 Sept 2017

Neidhardt Guido, Hauke Jan, Ramser Juliane, Groß Eva, Gehrig Andrea, Müller Clemens R, Kahlert Anne-Karin, Hackmann Karl, Honisch Ellen, Niederacher Dieter, Heilmann-Heimbach Stefanie, Franke André, Lieb Wolfgang, Thiele Holger, Altmüller Janine, Nürnberg Peter, Klaschik Kristina, Ernst Corinna, Ditsch Nina, Jessen Frank, Ramirez Alfredo, Wappenschmidt Barbara, Engel Christoph, Rhiem Kerstin, Meindl Alfons, Schmutzler Rita K, Hahnen Eric

Abstract excerpt

IMPORTANCE: Germline mutations in established moderately or highly penetrant risk genes for breast cancer (BC) and/or ovarian cancer (OC), including BRCA1 and BRCA2, explain fewer than half of all familial BC and/or OC cases. Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel...

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Source

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Identifiers

PMID: 28033443
DOI: 10.1001/jamaoncol.2016.5592
PMCID: PMC5824291

Genes

FANCM
BRCA1
BRCA2

Variants

rs147021911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.PMID 28033443Read ↗

Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.Semantic proximity Read ↗

A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.Semantic proximity Read ↗

Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies<i>FANCM</i>as a susceptibility gene for estrogen-receptor-negative breast cancerSemantic proximity Read ↗

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Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.Semantic proximity Read ↗

Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.Semantic proximity Read ↗

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.Semantic proximity Read ↗

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.Semantic proximity Read ↗

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.Semantic proximity Read ↗

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.Semantic proximity Read ↗

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerSemantic proximity Read ↗

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.Semantic proximity Read ↗

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