Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J et al.
Human Genetics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Using a brain-like endothelial cell differentiation to characterize the CS79iBRCA-n2 BRCA1 mutated patient derived stem cell line.
Alexander NG et al.
Frontiers in Cell and Developmental Biology, 2025
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.
de Oliveira Ferreira C et al.
Bmc Cancer, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
Rweyemamu LP et al.
Cancer Medicine, 2023
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
[Comparison of hereditary breast and ovarian cancer syndrome and sporadic ovarian cancer in ovarian cancer BRCA mutations].
Duan RR et al.
Zhonghua Fu Chan Ke Za Zhi, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
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
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
Millan Catalan O et al.
Cancers, 2019
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
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
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Arai M et al.
Journal of Human Genetics, 2018
Genomic and Proteomic Alterations in Desmoplastic Small Round Blue-Cell Tumors.
Bulbul A et al.
Jco Precision Oncology, 2018
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
Alvarez C et al.
Oncotarget, 2017
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT et al.
Bmc Medical Genomics, 2017
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
Park B et al.
Breast Cancer Research and Treatment, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Rebbeck TR et al.
Breast Cancer Research : Bcr, 2016
Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.
Ossa CA et al.
The Oncologist, 2016
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.
Dutil J et al.
Breast Cancer Research and Treatment, 2015
Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.
Villarreal-Garza C et al.
Cancer, 2015
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.
Weitzel JN et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M et al.
Plos One, 2013
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B et al.
Plos One, 2012
BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients.
Lim MC et al.
Journal of Cancer Research and Clinical 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
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 BRCA mutations and founder effect in high-risk Hispanic families.
Weitzel JN et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.
Esteban-Cardeñosa E et al.
Clinical Chemistry, 2004
Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.
Llort G et al.
Human Mutation, 2002