Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1404*
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BRCA2

NM_000059.4:p.S1404*

Associated Papers

From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.

Al Bader SB et al.

Biomedicines, 2025

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S2

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S4

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Corrigendum: Germline mutations in patients with early-onset prostate cancer.

Tang T et al.

Frontiers in Oncology, 2024

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

DNA Damage Repair Pathways in Prostate Cancer: A Narrative Review of Molecular Mechanisms, Emerging Biomarkers and Therapeutic Targets in Precision Oncology.

Grypari IM et al.

International Journal of Molecular Sciences, 2023

BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.

Thorne H et al.

Histopathology, 2023

Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.

Breen KE et al.

The Journal of Urology, 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-s010.xlsx › Latino_only

Genetic profiling of hormone-sensitive and castration-resistant prostate cancers and identification of genetic mutations prone to castration-resistant prostate cancer.

Wang Z et al.

Prostate Cancer and Prostatic Diseases, 2023

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Tumor immune microenvironment of primary prostate cancer with and without germline mutations in homologous recombination repair genes.

Trigos AS et al.

Journal for Immunotherapy of Cancer, 2022

35764368 (PubMed )
Supplement: jitc-2021-003744supp003.pdf

Germline Mutations in Patients With Early-Onset Prostate Cancer.

Tang T et al.

Frontiers in Oncology, 2022

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Dong L et al.

Cancer Biology & Medicine, 2021

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients.

Zhu C et al.

Frontiers in Genetics, 2021

34594355 (PubMed )
Supplement: Table_2.xlsx › actionableAll

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

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

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.

Dong L et al.

Human Mutation, 2018

A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.

Liu Q et al.

Cancer Biology & Therapy, 2018

Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

Guan Y et al.

Familial Cancer, 2015

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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."