Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L771L
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BRCA2

NM_000059.4:p.L771L

Associated Papers

Benign polymorphisms in the BRCA genes with linkage disequilibrium is associated with cancer characteristics.

Lee KT et al.

Cancer Science, 2024

Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.

Biegała Ł et al.

Cells, 2023

37048111 (PubMed )
Supplement: cells-12-01038-s001.zip › cells-2202160-supplementary.pdf

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-s009.xlsx › Benign

Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.

Ostrowska M et al.

Journal of Genomics, 2022

Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.

Poon KS et al.

Global Medical Genetics, 2021

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

Chian J et al.

Frontiers in Molecular Biosciences, 2021

34235180 (PubMed )
Supplement: Table2.XLSX › BRCA1

GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.

Lee EJ et al.

Annals of Clinical and Laboratory Science, 2020

BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

Cifuentes-C L et al.

Colombia Medica (cali, Colombia), 2019

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

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.

Al Hannan F et al.

Molecular Genetics & Genomic Medicine, 2019

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC et al.

Human Genomics, 2019

30630528 (PubMed )
Supplement: 40246_2018_188_MOESM2_ESM.xlsx › Hoja1

Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.

Cortés C et al.

Hereditary Cancer in Clinical Practice, 2019

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_Table2

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Buleje J et al.

Molecular Genetics & Genomic Medicine, 2017

A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.

Ellison G et al.

British Journal of Cancer, 2017

Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.

Schenk D et al.

Plos One, 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 › TableS2

Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2016

Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.

de Oliveira ES et al.

Familial Cancer, 2016

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-s002.xlsx › Sheet1

BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.

Mundhofir FE et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 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

Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue leading to familial breast cancer with an increased risk of distant metastases' occurrence.

Medimegh I et al.

Medical Oncology (northwood, London, England), 2014

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Ahmad J et al.

Clinical Genetics, 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

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

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

Willems P et al.

International Journal of Oncology, 2009

The use of ancestral haplotypes in the molecular diagnosis of familial breast cancer.

Frosk P et al.

Genetic Testing, 2007

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 mutations in a South American population.

Jara L et al.

Cancer Genetics and Cytogenetics, 2006

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

Seo JH et al.

Human Mutation, 2004

Investigation of somatic PIK3CA gene mutations in breast cancer patients.

M.Pevzner A et al.

Journal of B.u.on. : Official Journal of the Balkan Union of Oncology, 0

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