Associated Papers
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 2021
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.
Lodovichi S et al.
Mutagenesis, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
Al Hannan F et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
Cipriano NM et al.
Breast Cancer (tokyo, Japan), 2019
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Somatic mutations in early onset luminal breast cancer.
Encinas G et al.
Oncotarget, 2018
Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.
Anantha RW et al.
Elife, 2017
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
Maresca L et al.
European Journal of Medical Genetics, 2015
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
Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.
Haffty BG et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Lee E et al.
Breast Cancer Research : Bcr, 2008
BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants.
Elstrodt F et al.
Cancer Research, 2006
High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).
Infante M et al.
Journal of Human Genetics, 2006
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.
Freedman ML et al.
Cancer Research, 2005
The mutation spectrum in Holt-Oram syndrome.
Cross SJ et al.
Journal of Medical Genetics, 2000
[BRCA1 gene mutations in early-onset breast cancer].
Ding X et al.
Zhonghua Yi Xue Za Zhi, 2000