Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R865Q
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BRIP1

NM_032043.3:p.R865Q

Associated Papers

Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.

Arnon J et al.

Familial Cancer, 2024

38743206 (PubMed )
Supplement: 10689_2024_391_MOESM1_ESM.docx

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Adam F et al.

Bmc Medical Genomics, 2023

36647026 (PubMed )
Supplement: 12920_2023_1437_MOESM2_ESM.xlsx › all_cases

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Douglas SPM et al.

Scientific Reports, 2022

35739278 (PubMed )
Supplement: 41598_2022_14364_MOESM1_ESM.xlsx › Supplementary_table_1

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

The genomic and epigenomic evolutionary history of papillary renal cell carcinomas.

Zhu B et al.

Nature Communications, 2020

32555180 (PubMed )
Supplement: 41467_2020_16546_MOESM9_ESM.xlsx › Data_S6

Genome-based Mutational Analysis by Next Generation Sequencing in Patients with Malignant Pleural and Peritoneal Mesothelioma.

Ugurluer G et al.

Anticancer Research, 2016

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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."