Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E260fs
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BRCA2

NM_000059.4:p.E260fs

Associated Papers

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.

Kwong A et al.

Cancers, 2024

39272924 (PubMed )
Supplement: cancers-16-03066-s001.zip › cancers-3162067-SI.pdf

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

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

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.

Tomaszowski KH et al.

Nature Communications, 2023

36906610 (PubMed )
Supplement: 41467_2023_36933_MOESM1_ESM.pdf

Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.

Li Y et al.

Bmc Cancer, 2022

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

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

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1

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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s005.xlsx › dbBRCA2

Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Lin PC et al.

Scientific Reports, 2019

30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM2_ESM.xlsx › ___1

BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.

Biswas K et al.

Nature Communications, 2018

29416040 (PubMed )
Supplement: 41467_2018_3020_MOESM1_ESM.pdf

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Michl J et al.

Nature Structural & Molecular Biology, 2016

27322732 (PubMed )
Supplement: NIHMS69022-supplement-Supplementary_Tables.pdf
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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."