Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1236_P1238delFs
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BRCA1

NM_007294.4:p.N1236_P1238delFs

Associated Papers

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

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

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_

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Kang HP et al.

Peerj, 2016

27375968 (PubMed )
Supplement: peerj-04-2162-s004.xlsx › Sheet1
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