Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q969*
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BRCA2

NM_000059.4:p.Q969*

Associated Papers

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM9_ESM.xlsx › Western_Asian_BRCA2

CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.

Corso G et al.

Jama Network Open, 2024

38652475 (PubMed )
Supplement: jamanetwopen-e247862-s001.pdf

BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy.

Oh JH et al.

Journal of Pathology and Translational Medicine, 2023

37981726 (PubMed )
Supplement: jptm-2023-10-22-Supplementary-Table-S1.pdf

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.

Schaare D et al.

Genes, 2023

36833327 (PubMed )
Supplement: genes-14-00400-s001.zip › Supplementary_Document_S6_S7.xlsx › Supplementary_Document_6

Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.

Gurioli G et al.

International Journal of Molecular Sciences, 2022

36555431 (PubMed )
Supplement: ijms-23-15789-s001.zip › ijms-2007273-SI.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

Five Italian Families with Two Mutations in BRCA Genes.

Vietri MT et al.

Genes, 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Klek S et al.

Jnci Cancer Spectrum, 2020

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.

Concolino P et al.

International Journal of Molecular Sciences, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.

Marchetti C et al.

Annals of Surgical Oncology, 2018

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Actionable gene alterations in an Asian population with triple-negative breast cancer.

Nagahashi M et al.

Jco Precision Oncology, 2018

Clinical study of genomic drivers in pancreatic ductal adenocarcinoma.

Barrett MT et al.

British Journal of Cancer, 2017

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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."