Associated Papers
Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.
Rosado-Jiménez L et al.
Familial Cancer, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes.
Schwartz CJ et al.
Npj Breast Cancer, 2025
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
Ekram SN et al.
Discover Oncology, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
The Current State of Breast Cancer Genetics in Populations of African Ancestry.
Cupertino SES et al.
Genes, 2025
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.
Gervas P et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.
Godinez Paredes JM et al.
Breast Cancer Research and Treatment, 2024
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
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.
Corso G et al.
European Journal of Human Genetics : Ejhg, 2023
Differential Sensitivity of Germline and Somatic BRCA Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.
Vendrell JA et al.
International Journal of Molecular Sciences, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P et al.
Breast Cancer Research and Treatment, 2023
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
Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer.
Carvalho CM et al.
Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 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
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Wei CH et al.
Plos One, 2023
Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.
Ferreyra Y et al.
Frontiers in Oncology, 2023
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
D'Elia G et al.
Genes, 2022
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc Cancer, 2022
Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
Elalaoui SC et al.
Breast Cancer Research and Treatment, 2022
Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.
Kiendrebeogo IT et al.
Ethiopian Journal of Health Sciences, 2022
Mutations in exon 11 (11.1 and 11.2) of the BRCA1 gene and risk factors for breast cancer in Burkina Faso.
Kiendrebeogo IT et al.
Journal of Public Health in Africa, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.
Luo Y et al.
International Journal of General Medicine, 2022
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Oliverio A et al.
Frontiers in Genetics, 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
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.
Abdel-Razeq H et al.
Scientific Reports, 2021
Malignant salivary gland tumours in families with breast cancer susceptibility.
Ripamonti CB et al.
Virchows Archiv : an International Journal of Pathology, 2021
An Algorithm Combining Patient Performance Status, Second Hit Analysis, PROVEAN and Dann Prediction Tools Could Foretell Sensitization to PARP Inhibitors in Digestive, Skin, Ovarian and Breast Cancers.
Chevrier S et al.
Cancers, 2021
Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.
Ben Ayed-Guerfali D et al.
Journal of Translational Medicine, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
Hamdi Y et al.
Frontiers in Oncology, 2021
Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
Laraqui A et al.
Journal of Genomics, 2021
Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
Barbalho D et al.
Frontiers in Oncology, 2021