Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1126fs
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BRCA1

NM_007294.4:p.P1126fs

Associated Papers

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

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-s010.xlsx › Asian_MNS_both

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

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.

Apessos A et al.

Cancer Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."