Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R823S
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BRIP1

NM_032043.3:p.R823S

Associated Papers

Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.

Zheng Y et al.

International Journal of Cancer, 2025

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s06.xlsx › G._Class5_SNVs_indels

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N et al.

Breast Cancer Research : Bcr, 2018

29368626 (PubMed )
Supplement: 13058_2018_935_MOESM1_ESM.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."