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
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
36385461 (PubMed )
Supplement: IJC-152-1159-s009.xlsx › Benign
Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.
Kaissarian NM et al.
Journal of the National Cancer Institute, 2022
Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.
Li J et al.
Frontiers in Oncology, 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
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Casadei S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
Fackenthal JD et al.
International Journal of Cancer, 2012
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