Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R691delFs
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BRCA1

NM_007294.4:p.R691delFs

Associated Papers

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-s006.xlsx › BRCA1

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

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

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.

Ou J et al.

Journal of Breast Cancer, 2013

Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients.

Manguoğlu E et al.

Cancer Genetics and Cytogenetics, 2010

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

Lalloo F et al.

European Journal of Cancer (oxford, England : 1990), 2006

Familial breast and ovarian cancers.

Arai M et al.

International Journal of Clinical Oncology, 2004

BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.

Yazici H et al.

Human Mutation, 2002

Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers.

Kashima K et al.

Japanese Journal of Cancer Research : Gann, 2000

The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

Gayther SA et al.

American Journal of Human Genetics, 1999

Genetic testing for breast-ovarian cancer susceptibility: a regional trial.

Loader S et al.

Genetic Testing, 1998

BRCA1 mutation update and analysis.

Grade K et al.

Journal of Cancer Research and Clinical Oncology, 1996

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

Gayther SA et al.

Nature Genetics, 1995

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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."