Associated Papers
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s009.xlsx › Benign
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1
Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
Cunningham JM et al.
Scientific Reports, 2014
24504028 (PubMed )
Supplement: srep04026-s1.pdf
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P et al.
Cancer Discovery, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.
Gonzalez-Hormazabal P et al.
Breast Cancer Research and Treatment, 2011
Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
Beristain E et al.
Breast Cancer Research and Treatment, 2007
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.
Osorio A et al.
Human Mutation, 2007
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
Tavtigian SV et al.
Journal of Medical Genetics, 2006
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
[Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg].
Grudinina NA et al.
Genetika, 2005
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families.
Jara L et al.
Biological Research, 2004
SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is downregulated in breast cancer.
Zeller C et al.
Oncogene, 2003
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