Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S2414S
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BRCA2

NM_000059.4:p.S2414S

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S1_SNV.xlsx › s1_BRCA2

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

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.s006.xlsx › Sheet1

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.

Landeros N et al.

Biological Research, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.

Wu Z et al.

Bmc Cancer, 2024

38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.

Muhammad N et al.

Hereditary Cancer in Clinical Practice, 2023

The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination.

Wu D et al.

Cell Discovery, 2023

37789001 (PubMed )
Supplement: 41421_2023_590_MOESM1_ESM.xlsx › Sheet1

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.

Hurník P et al.

Bmc Oral Health, 2023

37573343 (PubMed )
Supplement: 12903_2023_3259_MOESM1_ESM.xlsx › 202112658_AMEL_SNP_Table

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-s006.xlsx › BRCA2

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_

Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.

Bozsik A et al.

Cancer Research and Treatment, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.

Nix P et al.

Familial Cancer, 2022

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

Ebner S et al.

Oncotarget, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Martín-Campos JM

Biomedicines, 2021

34829957 (PubMed )
Supplement: biomedicines-09-01728-s001.zip › biomedicines-1435333-sup2.pdf

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Lincoln SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S1

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

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

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

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

Salmi F et al.

Plos One, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.

Golebiewska A et al.

Acta Neuropathologica, 2020

33009951 (PubMed )
Supplement: 401_2020_2226_MOESM1_ESM.pdf

Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.

Verma S et al.

Bmc Cancer, 2020

Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.

Ben Kridis-Rejeb W et al.

Molecular Biology Reports, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35

Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.

Liang Z et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2020

Phase I dose-escalation and expansion study of PARP inhibitor, fluzoparib (SHR3162), in patients with advanced solid tumors.

Li H et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

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
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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."