Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1067D
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BRCA1

NM_007294.4:p.N1067D

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-s001.xlsx › Indian

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

34235180 (PubMed )
Supplement: Table3.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-s004.xlsx › BRCA1

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

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s003.xlsx › Sheet1

BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Stordal B et al.

Molecular Oncology, 2013

BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

Lara K et al.

Biological Research, 2012

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P et al.

Breast Cancer Research and Treatment, 2011

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V et al.

Bmc Medical Genetics, 2011

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Kuznetsov SG et al.

Nature Medicine, 2008

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G et al.

Breast Cancer Research and Treatment, 2006

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY et al.

Biochemical and Biophysical Research Communications, 2006

[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

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 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

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

Gallardo M et al.

Breast Cancer Research and Treatment, 2006

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

Infante M et al.

Journal of Human Genetics, 2006

Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report.

Majdak EJ et al.

European Journal of Cancer (oxford, England : 1990), 2005

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

Claes K et al.

British Journal of Cancer, 2004

[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

BRCA2 germline mutations in Japanese breast cancer families.

Inoue R et al.

International Journal of Cancer, 1997

[Breast cancer genetics. BRCA1 and BRCA2: the main genes for disease predisposition].

Ruiz-Flores P et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0

Clinical follow up of mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes.

Calderón-Garcidueñas AL et al.

Salud Publica De Mexico, 0

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