| http://purl.uniprot.org/citations/26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26820313 | http://www.w3.org/2000/01/rdf-schema#comment | "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) was identified in early DNA damage response gene, MCPH1, significantly associating with breast cancer susceptibility both in familial (5/145, 3.4%, P = 0.003, OR 8.3) and unselected cases (16/1150, 1.4%, P = 0.016, OR 3.3). A total of 21 mutation positive families were identified, of which one-third exhibited also brain tumors and/or sarcomas (P = 0.0007). Mutation carriers exhibited significant increase in genomic instability assessed by cytogenetic analysis for spontaneous chromosomal rearrangements in peripheral blood lymphocytes (P = 0.0007), suggesting an effect for MCPH1 haploinsufficiency on cancer susceptibility. Furthermore, 40% of the mutation carrier tumors exhibited loss of the wild-type allele. These findings collectively provide strong evidence for MCHP1 being a novel breast cancer susceptibility gene, which warrants further investigations in other populations."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1005816"xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Kauppila S."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Pylkas K."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Winqvist R."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Grip M."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Jukkola-Vuorinen A."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Rapakko K."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Mantere T."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/author | "Tervasmaki A."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/name | "PLoS Genet"xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/pages | "e1005816"xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/title | "Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility."xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/26820313 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26820313 |
| http://purl.uniprot.org/citations/26820313 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26820313 |
| http://purl.uniprot.org/uniprot/#_A0A172QZW0-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_A0A1B2M4G2-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_H8ZSC4-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_Q6W788-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_Q6W791-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_Q6W794-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |
| http://purl.uniprot.org/uniprot/#_Q6W795-mappedCitation-26820313 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26820313 |