The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
about
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsGermline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian PopulationComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingAnalysis of missense variation in human BRCA1 in the context of interspecific sequence variationCharacterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer familiesBRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.Family history and breast cancer hormone receptor status in a Spanish cohort.Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.Multiple local and recent founder effects of TGM1 in Spanish families.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Functional differences among BRCA1 missense mutations in the control of centrosome duplicationMutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancerFounder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.Hereditary breast cancer in the Han Chinese population.BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.Familial breast/ovarian cancer and BRCA1/2 genetic screening: the role of immunohistochemistry as an additional method in the selection of patientsPrevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.Genetic Cancer Risk Assessment for Breast Cancer in Latin America.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Intrinsic differences between authentic and cryptic 5' splice sites.Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations.A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalencCHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.Mutations in context: implications of BRCA testing in diverse populations.Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.A novel algorithm for identification of activated cryptic 5' splice sites.Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations
P2860
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P2860
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@ast
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@en
type
label
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@ast
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@en
prefLabel
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@ast
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@en
P2093
P356
P1433
P1476
The R71G BRCA1 is a founder Sp ...... nt splicing of the transcript.
@en
P2093
Bressac-De-Paillerets B
Domènech M
Douglas FS
P304
P356
10.1002/HUMU.1136
P577
2001-06-01T00:00:00Z