Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q944E
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BRIP1

NM_032043.3:p.Q944E

Associated Papers

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Full_information

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.

Kim JW et al.

Cancer Research and Treatment, 2023

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s003.xlsx › Table_S2

Genomic profiling of Chinese patients with urothelial carcinoma.

Yang B et al.

Bmc Cancer, 2021

33588785 (PubMed )
Supplement: 12885_2021_7829_MOESM3_ESM.xlsx › Germline_variants

Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy.

Tian X et al.

Pathology Oncology Research : Por, 2021

34512202 (PubMed )
Supplement: Table1.XLSX › SNV_prediction

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Suzuki A et al.

Science Advances, 2020

32426482 (PubMed )
Supplement: aav9778_SM.pdf

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1

Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Terashima T et al.

Oncotarget, 2019

31666926 (PubMed )
Supplement: oncotarget-10-5949-s002.xlsx › Table_S3

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J et al.

Cancer Medicine, 2019

30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1

[Mutation Spectrum of FANCJ Gene in Adult Acute Myeloid Leukemia].

Liu SB et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.

Sato K et al.

Cancer Science, 2017

28796317 (PubMed )
Supplement: CAS-108-2287-s002.docx

FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.

Nath S et al.

Nucleic Acids Research, 2017

Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.

Kim H et al.

Cancer Research and Treatment, 2016

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

Ouhtit A et al.

Frontiers in Bioscience (elite Edition), 2016

Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Nichols AC et al.

Bmc Pharmacology & Toxicology, 2014

25428177 (PubMed )
Supplement: 40360_2014_350_MOESM2_ESM.xlsx › Supp._Table_2

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

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Hereditary breast cancer in the Han Chinese population.

Cao W et al.

Journal of Epidemiology, 2013

Mutations in BRIP1 confer high risk of ovarian cancer.

Rafnar T et al.

Nature Genetics, 2011

Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy.

Silvestri V et al.

Breast Cancer Research and Treatment, 2011

Discovering moderate-risk breast cancer susceptibility genes.

Hollestelle A et al.

Current Opinion in Genetics & Development, 2010

Mutation screening of breast cancer susceptibility genes in Chinese high-risk families: the results will develop the genetic testing strategy in China.

Cao AY et al.

Breast Cancer Research and Treatment, 2010

Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

Cao AY et al.

Breast Cancer Research and Treatment, 2009

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

[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].

Song CG et al.

Zhonghua Yi Xue Za Zhi, 2005

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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