Associated Papers
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
40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 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
30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_
Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
Sharma-Oates A et al.
Precision Clinical Medicine, 2018
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.
Liede A et al.
Human Mutation, 2002
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.
Liede A et al.
American Journal of Human Genetics, 2002
Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years.
Ho GH et al.
Cancer, 2000
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