Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I2490M
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BRCA2

NM_000059.4:p.I2490M

Associated Papers

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S3

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-s005.xlsx › dbBRCA2

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

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

Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an STK11 variant.

Parachoniak CA et al.

Cold Spring Harbor Molecular Case Studies, 2017

28550065 (PubMed )
Supplement: supp_mcs.a000778_Supplemental_Table2.xlsx › Sheet1

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Elimam AA et al.

Bmc Medical Genetics, 2017

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

Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.

Riahi A et al.

Journal of Theoretical Biology, 2016

Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

Riahi A et al.

Clinical Genetics, 2015

Establishment and characterization of two primary breast cancer cell lines from young Indian breast cancer patients: mutation analysis.

Pandrangi SL et al.

Cancer Cell International, 2014

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

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

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

Ozcelik H et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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

BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

Lara K et al.

Biological Research, 2012

Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.

Vodusek AL et al.

Radiology and Oncology, 2011

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

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

Stegel V et al.

Bmc Medical Genetics, 2011

Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

Turkovic L et al.

Bmc Cancer, 2010

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

Balabas A et al.

Familial Cancer, 2010

An unusual BRCA2 allele carrying two splice site mutations.

Colombo M et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2009

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

Allen-Brady K et al.

Bmc Research Notes, 2009

BRCA2 mutations as a universal risk factor for pancreatic cancer has a limited role in Korean ethnic group.

Cho JH et al.

Pancreas, 2008

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

Toh GT et al.

Plos One, 2008

Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma.

Akbari MR et al.

Oncogene, 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

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

Loizidou M et al.

Clinical Genetics, 2007

Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia.

Troudi W et al.

Journal of Human 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

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

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

Weber J et al.

Electrophoresis, 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

Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma.

Kim YT et al.

Gynecologic Oncology, 2005

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing.

Purnomosari D et al.

Journal of Clinical Pathology, 2005

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

Seo JH et al.

Human Mutation, 2004

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

Familial breast and ovarian cancers.

Arai M et al.

International Journal of Clinical Oncology, 2004

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