Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.K531K
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BRCA2

NM_000059.4:p.K531K

Associated Papers

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

Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.

Keup C et al.

Cellular and Molecular Life Sciences : Cmls, 2020

31254045 (PubMed )
Supplement: 18_2019_3189_MOESM5_ESM.xlsx › Tabelle1

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

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_Table3

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

Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing.

Burger JD et al.

Database : the Journal of Biological Databases and Curation, 2014

25246425 (PubMed )
Supplement: supp_bau094_Appendix_D_v30.docx

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 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

Akilzhanova AR et al.

Central Asian Journal of Global Health, 2013

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Jalkh N et al.

Hereditary Cancer in Clinical Practice, 2012

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A et al.

Gynecologic Oncology, 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

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

Stegel V et al.

Bmc Medical Genetics, 2011

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

Manguoğlu E et al.

Cancer Genetics and Cytogenetics, 2010

Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland.

Balabas A et al.

Familial Cancer, 2010

No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees.

Allen-Brady K et al.

Bmc Research Notes, 2009

BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Toh GT et al.

Plos One, 2008

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

Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families.

Hartikainen JM et al.

Clinical Genetics, 2007

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.

Loizidou M et al.

Clinical Genetics, 2007

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

Han SH et al.

Clinical Genetics, 2006

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

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

Saxena S et al.

Bmc Medical Genetics, 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

[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

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Seo JH et al.

Human Mutation, 2004

Familial breast and ovarian cancers.

Arai M et al.

International Journal of Clinical Oncology, 2004

BRCA1 and BRCA2 mutations in women from Shanghai China.

Suter NM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.

Hadjisavvas A et al.

Human Mutation, 2003

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

Steinmann D et al.

British Journal of Cancer, 2001

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 0

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