Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.W1718Splc
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BRCA1

NM_007294.4:p.W1718Splc

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-s005.xlsx › Chinese

BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study.

Rioki JN et al.

The Pan African Medical Journal, 2023

The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.

Oliverio A et al.

Frontiers in Genetics, 2022

35356420 (PubMed )
Supplement: Table1.XLSX › Foglio1

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Shen L et al.

Frontiers in Oncology, 2021

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-s004.xlsx › BRCA1

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Sung PL et al.

Plos One, 2017

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

Kim YC et al.

Oncotarget, 2016

The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.

Li WF et al.

Breast Cancer Research and Treatment, 2008

[BRCA1 germ line mutations in Chinese early-onset breast cancer patients].

Li WF et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients].

Hu Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[BRCA1 1100delAT is a recurrent mutation in Chinese women with familial breast cancer].

Li WF et al.

Zhonghua Yi Xue Za Zhi, 2007

[Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer].

Song CG et al.

Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2006

The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.

Song CG et al.

Journal of Cancer Research and Clinical Oncology, 2006

[BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].

Song CG et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].

Song CG et al.

Zhonghua Yi Xue Za Zhi, 2005

[Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people].

Zhou YZ et al.

Zhonghua Yi Xue Za Zhi, 2004

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