Discover Community Create You

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

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

PLoS genetics - 1 Jan 2016

Mantere Tuomo, Winqvist Robert, Kauppila Saila, Grip Mervi, Jukkola-Vuorinen Arja, Tervasmäki Anna, Rapakko Katrin, Pylkäs Katri

Abstract excerpt

Breast cancer is strongly influenced by hereditary risk factors, a majority of which still remain unknown. Here, we performed a targeted next-generation sequencing of 796 genes implicated in DNA repair in 189 Finnish breast cancer cases with indication of hereditary disease susceptibility and focused the analysis on protein truncating mutations. A recurrent heterozygous mutation (c.904_916del, p.Arg304ValfsTer3)...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Breast Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to Cytoskeletal Proteins

Share to Germ-Line Mutation

Share to Haplotypes

Share to High-Throughput Nucleotide Sequencing

Share to Nerve Tissue Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 26820313
DOI: 10.1371/journal.pgen.1005816
PMCID: PMC4731077

Genes

MCPH1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.PMID 26820313Read ↗

Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 ParticipantsSemantic proximity Read ↗

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)Semantic proximity Read ↗

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in ItalySemantic proximity Read ↗

The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumoursSemantic proximity Read ↗

Frequent Alterations of MCPH1 and ATM are Associated with Primary Breast Carcinoma: Clinical and Prognostic ImplicationsSemantic proximity Read ↗

Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility.Semantic proximity Read ↗

MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.Semantic proximity Read ↗

Hereditary genes and SNPs associated with breast cancer.Semantic proximity Read ↗

Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.Semantic proximity Read ↗

Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancerSemantic proximity Read ↗

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast MexicoSemantic proximity Read ↗

Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases.Semantic proximity Read ↗

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