Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E2292G
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BRCA2

NM_000059.4:p.E2292G

Associated Papers

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

Stella S et al.

Genes, 2024

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_6.XLSX › 628_all_list_group_2

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

Patruno M et al.

Cancers, 2021

34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.pdf

BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.

Ghouil R et al.

Nature Communications, 2021

34326328 (PubMed )
Supplement: 41467_2021_24871_MOESM2_ESM.pdf

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S7

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

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

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
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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."