Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I180fs
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BRCA2

NM_000059.4:p.I180fs

Associated Papers

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O et al.

American Journal of Medical Genetics. Part A, 2024

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.

Freire MV et al.

Journal of Personalized Medicine, 2024

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

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.

Mori T et al.

Cancer Medicine, 2023

36345163 (PubMed )
Supplement: CAM4-12-6594-s002.xlsx › Supp_Table1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

He W et al.

Biomarker Insights, 2022

36533271 (PubMed )
Supplement: sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx › mutation_list_of_the_former_22_

Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.

Duzkale Teker N et al.

Breast Care (basel, Switzerland), 2021

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM3_ESM.xlsx › Supplementary_Table_S2

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Di Giacomo D et al.

Human Mutation, 2013

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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."