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

Article

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.

European journal of human genetics : EJHG - 1 Aug 2013

de Garibay Gorka Ruiz, Díaz Avellaneda, Gaviña Belén, Romero Atocha, Garre Pilar, Vega Ana, Blanco Ana, Tosar Alicia, Díez Orland, Pérez-Segura Pedro, Díaz-Rubio Eduardo, Caldés Trinidad, de la Hoya Miguel

Abstract excerpt

Fanconi anemia is a genetically heterogeneous autosomal recessive disorder characterized by development abnormalities, bone marrow failure, and childhood cancers. Compelling evidence indicates a common genetic basis for FA and breast/ovarian cancer susceptibility. Recently, biallelic germ-line mutations in SLX4 have been demonstrated to cause a previously unknown FA subtype (FA-P). We address the role of...

Read the complete abstract on PubMed

Topics

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

Share to BRCA1 Protein
Share to BRCA2 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Breast Neoplasms

Share to Family Health

Share to Fanconi Anemia

Share to Germ-Line Mutation

Share to Ovarian Neoplasms

Share to Recombinases

Source

Open in PubMed Open full text

Identifiers

PMID: 23211700
DOI: 10.1038/ejhg.2012.268
PMCID: PMC3722678

Genes

BRCA1
SLX4
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.PMID 23211700Read ↗

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.Semantic proximity Read ↗

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.Semantic proximity Read ↗

Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer.Semantic proximity Read ↗

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.Semantic proximity Read ↗

Assessment of SLX4 Mutations in Hereditary Breast Cancers.Semantic proximity Read ↗

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.Semantic proximity Read ↗

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.Semantic proximity Read ↗

Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer casesSemantic 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 ↗

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

Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.Semantic proximity Read ↗

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

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