Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1208K
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BRCA1

NM_007294.4:p.K1208K

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

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-s005.xlsx › dbBRCA2

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

Maistro S et al.

Bmc Cancer, 2016

27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › Table_S3

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

Stordal B et al.

Molecular Oncology, 2013

BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

Juwle A et al.

Medical Oncology (northwood, London, England), 2012

Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations.

DE Silva S et al.

Experimental and Therapeutic Medicine, 2011

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

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc

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

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

Miolo G et al.

Bmc Cancer, 2006

BRCA1 and BRCA2 mutations in a South American population.

Jara L et al.

Cancer Genetics and Cytogenetics, 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

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

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

Belogianni I et al.

Bmc Cancer, 2004

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

Steinmann D et al.

British Journal of Cancer, 2001

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