Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T336insFs
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BRCA1

NM_007294.4:p.T336insFs

Associated Papers

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

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_

BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

Francies FZ et al.

Bmc Cancer, 2015

Mutational processes molding the genomes of 21 breast cancers.

Nik-Zainal S et al.

Cell, 2012

22608084 (PubMed )
Supplement: mmc1.xlsx › 1a_breast_cancer_demographics
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