Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S871L
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BRCA2

NM_000059.4:p.S871L

Associated Papers

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.

Matusin SNI et al.

Plos One, 2025

40531958 (PubMed )
Supplement: pone.0312635.s005.xlsx › Sheet1

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

Lee KT et al.

Cancer Science, 2024

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

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

DNA Damage and Its Role in Cancer Therapeutics.

Moon J et al.

International Journal of Molecular Sciences, 2023

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS1.xlsx › Sheet3

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

Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives.

Saied MH et al.

Molecular Medicine Reports, 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

Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Salmi F et al.

Plos One, 2021

34242281 (PubMed )
Supplement: pone.0254101.s001.pdf

An interlocked DNA cascade system for universal probe-based melting curve analysis.

Zhang W et al.

Nanoscale, 2020

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

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.

Kour A et al.

Genetics and Molecular Biology, 2020

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

Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.

Cipriano NM et al.

Breast Cancer (tokyo, Japan), 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

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 for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Palmero EI et al.

Genetics and Molecular Biology, 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

Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.

El Khachibi M et al.

Bmc Cancer, 2015

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

BRCA1 and BRCA2 common mutations in iranian breast cancer patients: a meta analysis.

Forat-Yazdi M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 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

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

Levanat S et al.

Gene, 2012

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

Jang JH et al.

Journal of Human 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

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

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

Veschi S et al.

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

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 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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