Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K502delFs
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BRCA2

NM_000059.4:p.K502delFs

Associated Papers

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.

Mori T et al.

Cancer Medicine, 2023

36345163 (PubMed )
Supplement: CAM4-12-6594-s002.xlsx › Supp_Table1

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 › Total_BRCA1___BRCA2

Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.

Yoshida R et al.

Oncotarget, 2019

BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.

Liu Y et al.

Molecular Genetics & Genomic Medicine, 2019

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Arai M et al.

Journal of Human Genetics, 2018

Ductal Carcinoma in situ Detected during Prospective MR Imaging Screening of a Woman with a BRCA2 Mutation: The First Case Report in Japan.

Tozaki M et al.

Magnetic Resonance in Medical Sciences : Mrms : an Official Journal of Japan Society of Magnetic Resonance in Medicine, 2017

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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."