Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
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A guide for functional analysis of BRCA1 variants of uncertain significanceDNA methylation, its mediators and genome integrityHereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsBRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk.Factors influencing success of clinical genome sequencing across a broad spectrum of disordersLong-Range Signaling in MutS and MSH Homologs via Switching of Dynamic Communication PathwaysPrevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in LebanonData resources for the identification and interpretation of actionable mutations by clinicians.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingRecurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern PolandNovel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer familiesScreening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.Functional assays for analysis of variants of uncertain significance in BRCA2.BRCA Share: A Collection of Clinical BRCA Gene Variants.Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samplesStructure-activity relationship of the peptide binding-motif mediating the BRCA2:RAD51 protein-protein interaction.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.Somatic mutations in early onset luminal breast cancer.Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutationsGEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers
P2860
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P2860
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@ast
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@en
type
label
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@ast
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@en
prefLabel
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@ast
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@en
P2093
P2860
P50
P356
P1476
Description and analysis of ge ...... the UMD-BRCA1/BRCA2 databases.
@en
P2093
Etienne Rouleau
French BRCA GGC Consortium
Louisa Benboudjema
Olga Sinilnikova
P2860
P304
P356
10.1093/NAR/GKR1160
P407
P433
Database issue
P577
2011-12-05T00:00:00Z