Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q1782fs
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BRCA2

NM_000059.4:p.Q1782fs

Associated Papers

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

Clinical and Genetic Characteristics of Pediatric Colorectal Cancer.

Shen Q et al.

Pediatric Blood & Cancer, 2025

Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.

Borcoman E et al.

International Journal of Molecular Sciences, 2023

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGABreast_gBRCA

ATM kinase inhibitor AZD0156 in combination with irinotecan and 5-fluorouracil in preclinical models of colorectal cancer.

Davis SL et al.

Bmc Cancer, 2022

36309653 (PubMed )
Supplement: 12885_2022_10084_MOESM1_ESM.pdf

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Bonazzi VF et al.

Genome Medicine, 2022

35012638 (PubMed )
Supplement: 13073_2021_990_MOESM2_ESM.xlsx › Supp_Table_6

Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients.

Zhu C et al.

Frontiers in Genetics, 2021

34594355 (PubMed )
Supplement: Table_2.xlsx › actionableAll

Molecular correlates of sensitivity to PARP inhibition beyond homologous recombination deficiency in pre-clinical models of colorectal cancer point to wild-type TP53 activity.

Smeby J et al.

Ebiomedicine, 2020

Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.

Cho HG et al.

Jci Insight, 2018

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM2_ESM.xlsx › Supplementary_Data_1

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.

Annala M et al.

European Urology, 2017

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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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."