Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.
Guan X et al.
Bmc Cancer, 2025
Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline double heterozygosity in ovarian cancer: a comparative case study.
Zheng L et al.
Frontiers in Oncology, 2025
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
PARPis response and outcome of ovarian cancer patients with BRCA1/2 germline mutation and a history of breast cancer.
Yuan H et al.
Journal of Gynecologic Oncology, 2024
The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.
Makhetha M et al.
Journal of Genetic Counseling, 2024
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
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
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
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
Van der Merwe NC et al.
Frontiers in Genetics, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
Toss A et al.
Diagnostics (basel, Switzerland), 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
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
Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
Deng H et al.
Molecular Genetics & Genomic Medicine, 2019
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
Wen WX et al.
Journal of Medical Genetics, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
Kwong A et al.
Journal of Medical Genetics, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015