Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

doi:10.1038/gim.2017.123

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Catucci Irene, Osorio Ana, Arver Brita, Neidhardt Guido, Bogliolo Massimo, Zanardi Federica, Riboni Mirko, Minardi Simone, Pujol Roser, Azzollini Jacopo, Peissel Bernard, Manoukian Siranoush, De Vecchi Giovanna, Casola Stefano, Hauke Jan, Richters Lisa, Rhiem Kerstin, Schmutzler Rita K, Wallander Karin, Törngren Therese, Borg Åke, Radice Paolo, Surrallés Jordi, Hahnen Eric, Ehrencrona Hans, Kvist Anders, Benitez Javier, Peterlongo Paolo

Abstract excerpt

PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Antineoplastic Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Fragility

Share to Consanguinity

Share to DNA Helicases

Share to Drug Resistance, Neoplasm

Share to Fanconi Anemia

Share to Germ-Line Mutation

Share to Risk Assessment

Source

Open in PubMed

Identifiers

PMID: 28837162
DOI: 10.1038/gim.2017.123

Genes

FANCM
BRCA1
BRCA2
PALB2

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.PMID 28837162Read ↗

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.Semantic proximity Read ↗

Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.Semantic proximity Read ↗

Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.Semantic proximity Read ↗

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

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.Semantic proximity Read ↗

The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.Semantic proximity Read ↗

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

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

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

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragilitySemantic proximity Read ↗

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

Predisposition to ALL and Solid Tumors Rather Than Bone Marrow Failure in FANCM-Associated Fanconi Anemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.