Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L1356L
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BRCA2

NM_000059.4:p.L1356L

Associated Papers

Prognostic Value of PARP1 and PARP2 Copy Number Alterations in Prostate Cancer.

Segalés L et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA2

Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.

Tsyganov MM et al.

Genes, 2023

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

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_

MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Karalidou V et al.

Biomolecules, 2022

36358902 (PubMed )
Supplement: biomolecules-12-01552-s001.zip › final_annotation_file_CanVaS.xlsx › Sheet1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST2_Germline_Variants

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.

Alenezi WM et al.

Genes, 2022

35456503 (PubMed )
Supplement: genes-13-00697-s001.zip › genes-1650796-supplementary.xlsx › Suppl_Table_S1

Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Ebner S et al.

Oncotarget, 2022

Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.

Carnevali I et al.

Frontiers in Oncology, 2022

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

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

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ARUP

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR et al.

Plos One, 2020

32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP

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-s006.xlsx › BRCA2_ethnic_sources_

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_MOESM3_ESM.xlsx › Hoja1

Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and FANCF expression in ovarian carcinomas.

Moes-Sosnowska J et al.

Cancer Biology & Therapy, 2019

30822218 (PubMed )
Supplement: kcbt-20-06-1579955-s001.zip › Supplementary_information › Supplementary_Data_1_Revised_Clinical_impor_2017CBT10962_JMoes-Sosnowska_15_01_2019.pdf

Changes in classification of genetic variants in BRCA1 and BRCA2.

Kast K et al.

Archives of Gynecology and Obstetrics, 2018

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C et al.

Archives of Gynecology and Obstetrics, 2017

Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

Jarhelle E et al.

Familial Cancer, 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

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

Rodríguez-Balada M et al.

Cancer Genetics, 2016

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

Plaskocinska I et al.

Journal of Medical Genetics, 2016

27208206 (PubMed )
Supplement: jmedgenet-2016-103902supp.pdf

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

Koczkowska M et al.

Cancer Medicine, 2016

27167707 (PubMed )
Supplement: CAM4-5-1640-s001.pdf

BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X.

Garre P et al.

Clinical Genetics, 2015

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

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

Levanat S et al.

Gene, 2012

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2012

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

Stegel V et al.

Bmc Medical Genetics, 2011

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Coulet F et al.

Genetic Testing and Molecular Biomarkers, 2010

Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.

Yang R et al.

Breast Cancer Research and Treatment, 2009

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

Germline and Somatic mutations in postmenopausal breast cancer patients.

Nagy TR et al.

Clinics (sao Paulo, Brazil), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."