Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G949insFs
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BRCA1

NM_007294.4:p.G949insFs

Associated Papers

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

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-s004.xlsx › List

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ et al.

Oncotarget, 2018

Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer.

Miresmaeili SM et al.

International Journal of Reproductive Biomedicine, 2016

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Family history, BRCA mutations and breast cancer in Vietnamese women.

Ginsburg OM et al.

Clinical Genetics, 2011

Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.

Yap HL et al.

Familial Cancer, 2009

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E et al.

Breast Cancer Research : Bcr, 2008

BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer.

Ali AB et al.

Breast Cancer Research and Treatment, 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

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer.

Sng JH et al.

Journal of Medical Genetics, 2003

BRCA1 c.2845insA is a founder mutation in Singaporean Malay women with early onset breast/ovarian cancer.

Sng JH et al.

Annals of the Academy of Medicine, Singapore, 2003

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H et al.

British Journal of Cancer, 2000

The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case report.

Damayanti Z et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 0

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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."