Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1738_D1739delFs
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BRCA1

NM_007294.4:p.G1738_D1739delFs

Associated Papers

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Chinese

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Borde J et al.

Bmc Cancer, 2022

35761208 (PubMed )
Supplement: 12885_2022_9780_MOESM5_ESM.xlsx › Tabelle1

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.

Drüsedau M et al.

European Journal of Human Genetics : Ejhg, 2013

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

van Harssel JJ et al.

Familial Cancer, 2010

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