Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1428_Y1429insFs
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BRCA1

NM_007294.4:p.S1428_Y1429insFs

Associated Papers

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 › BRCA2_ethnic_sources_

Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.

Vocka M et al.

Cancers, 2019

31141992 (PubMed )
Supplement: cancers-11-00738-s001.pdf

A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.

Concolino P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation
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