Associated Papers
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
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 › ARUP
Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
Petrovics G et al.
Prostate Cancer and Prostatic Diseases, 2019
30542053 (PubMed )
Supplement: 41391_2018_114_MOESM1_ESM.xlsx › Sheet1
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
30630528 (PubMed )
Supplement: 40246_2018_188_MOESM3_ESM.xlsx › Hoja1
Somatic mutations in early onset luminal breast cancer.
Encinas G et al.
Oncotarget, 2018
29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_Table3
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › Table_S3
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
Fackenthal JD et al.
International Journal of Cancer, 2012
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Tazzite A et al.
Gynecologic Oncology, 2012
Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.
Maillet P et al.
Cancer Genetics and Cytogenetics, 2006
Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.
Onyia AF et al.
Technology in Cancer Research & Treatment, 0
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