Associated Papers
Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.
Uttarilli A et al.
Discover Oncology, 2026
The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1.
Kotsopoulos J et al.
Current Oncology (toronto, Ont.), 2025
Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.
Peng Y et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2025
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
Possible impact of HLA class I and class II on malignancies driven by a single germ-line BRCA1 mutation.
Ivanova M et al.
International Journal of Immunogenetics, 2023
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making.
Pavese F et al.
Cancers, 2022
BRCA1 Variant Assessment Using a Simple Analytic Assay.
Kim DM et al.
The Journal of Applied Laboratory Medicine, 2022
Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.
Vidra R et al.
International Journal of Environmental Research and Public Health, 2022
A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.
Majidzadeh-A K et al.
Familial Cancer, 2022
Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
Yoshida R
Breast Cancer (tokyo, Japan), 2021
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations.
Bhaskaran SP et al.
Journal of Medical Genetics, 2021
The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.
Deek MP et al.
European Urology, 2021
Genetic predisposition to male breast cancer in Poland.
Szwiec M et al.
Bmc Cancer, 2021
Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
Sekine M et al.
Genes, 2021
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.
Gao X et al.
Human Mutation, 2020
BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.
Wang Y et al.
Nature Communications, 2019
Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.
Urbina-Jara LK et al.
Genes, 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
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
de Souza Timoteo AR et al.
Breast Cancer Research and Treatment, 2018
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.
Diaz-Zabala HJ et al.
Cancers, 2018
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
Zhan W et al.
Pancreas, 2018
BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).
Boulenouar ACS et al.
The Gulf Journal of Oncology, 2018
Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
Palmirotta R et al.
International Journal of Molecular Sciences, 2018
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.
Kralickova P et al.
Frontiers in Immunology, 2018
Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families.
Riahi A et al.
Breast Cancer (tokyo, Japan), 2017
The fate of BRCA1-related germline mutations in triple-negative breast tumors.
Kotoula V et al.
American Journal of Cancer Research, 2017
BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.
Pilato B et al.
Genes, Chromosomes & Cancer, 2016
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.
Enyedi et al.
Oncotarget, 2016
Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.
Pratz KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.
Petersen AH et al.
European Journal of Human Genetics : Ejhg, 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
Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.
de Oliveira ES et al.
Familial Cancer, 2016
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
Kim YC et al.
Oncotarget, 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
Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.
Cybulski C et al.
Clinical Genetics, 2015
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Dodova RI et al.
Bmc Cancer, 2015
Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
Tafe LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A et al.
Expert Review of Molecular Diagnostics, 2015
High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.
Riahi A et al.
Familial Cancer, 2014
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
Concolino P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
Dagan E et al.
European Journal of Human Genetics : Ejhg, 2014
BRCA1 haploinsufficiency leads to altered expression of genes involved in cellular proliferation and development.
Feilotter HE et al.
Plos One, 2014
Detection of a novel mutation in exon 20 of the BRCA1 gene.
Chakraborty A et al.
Cellular & Molecular Biology Letters, 2013
The role of BRCA1 and BRCA2 in prostate cancer.
Li D et al.
Frontiers in Bioscience (landmark Edition), 2013
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.
Solano AR et al.
Springerplus, 2012