Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
The Crucial Role of Hereditary Cancer Panel Testing in Unaffected Individuals with a Strong Family History of Cancer: A Retrospective Study of a Cohort of 103 Healthy Subjects.
Pilenzi L et al.
Cancers, 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
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
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
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
Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
Nakagomi H et al.
Cancer Science, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.
Hirotsu Y et al.
Oncotarget, 2017
BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.
Sakamoto I et al.
Cancer, 2016
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Francies FZ et al.
Bmc Cancer, 2015
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
Hirotsu Y et al.
Molecular Genetics & Genomic Medicine, 2015
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
Hirotsu Y et al.
Molecular Genetics & Genomic Medicine, 2015
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Couch FJ et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015