Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R707C
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BRIP1

NM_032043.3:p.R707C

Associated Papers

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

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

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.

Calvo JA et al.

Molecular Cancer Research : Mcr, 2021

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.

Kamal L et al.

Cold Spring Harbor Molecular Case Studies, 2020

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.

Moyer CL et al.

Cancer Research, 2020

Holding All the Cards-How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability.

Datta A et al.

Genes, 2019

A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair.

Bharti SK et al.

Nucleic Acids Research, 2018

BLM's balancing act and the involvement of FANCJ in DNA repair.

Dhar S et al.

Cell Cycle (georgetown, Tex.), 2018

BRIP1, a potential candidate gene in development of non-BRCA1/2 breast cancer.

Ouhtit A et al.

Frontiers in Bioscience (elite Edition), 2016

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.

Cantor SB et al.

Environmental and Molecular Mutagenesis, 2010

Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins.

Wu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2009

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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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."