Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I42I
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BRCA1

NM_007294.4:p.I42I

Associated Papers

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

Maung KZY et al.

Blood Cancer Journal, 2018

29891941 (PubMed )
Supplement: 41408_2018_90_MOESM1_ESM.docx

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM et al.

Scientific Reports, 2014

24504028 (PubMed )
Supplement: srep04026-s1.pdf

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.

Clague J et al.

Plos One, 2011

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Meindl A et al.

Nature Genetics, 2010

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