Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q1089fs
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BRCA2

NM_000059.4:p.Q1089fs

Associated Papers

Identification and Computational Analysis of BRCA2 Variants in Mexican Women from Jalisco, Mexico, with Breast and Ovarian Cancer.

García-Verdín PM et al.

Medical Sciences (basel, Switzerland), 2025

Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.

Godinez Paredes JM et al.

Breast Cancer Research and Treatment, 2024

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke J et al.

Journal of Medical Genetics, 2022

33273034 (PubMed )
Supplement: jmedgenet-2020-107353supp001.pdf

Germline and somatic DNA repair gene alterations in prostate cancer.

Dall'Era MA et al.

Cancer, 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 › GCC

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant

A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Millan Catalan O et al.

Cancers, 2019

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

de Garibay GR et al.

Human Mutation, 2014

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I et al.

The Journal of Molecular Diagnostics : Jmd, 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."