Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.N196S
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BRIP1

NM_032043.3:p.N196S

Associated Papers

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

Primary mucinous cystadenocarcinoma of the breast: A case report and literature review.

Cao X et al.

Oncology Letters, 2025

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

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

Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.

Walsh RJ et al.

Frontiers in Oncology, 2024

38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1

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

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

36013219 (PubMed )
Supplement: jpm-12-01270-s001.zip › jpm-1799777-supplementary.pdf

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Kato S et al.

Jci Insight, 2021

33427211 (PubMed )
Supplement: jciinsight-6-142547-s159.pdf

Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.

Luo Y et al.

Biomed Research International, 2020

32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Germline_mutation

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

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc

[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

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Lu H et al.

Bmc Cancer, 2018

29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

Moffitt AB et al.

The Journal of Experimental Medicine, 2017

28424246 (PubMed )
Supplement: JEM_20160894_TableS1-S10.xlsx › Table_S1._Variants

Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort.

Liu X et al.

Cancer Medicine, 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

Melanoma arising in a nevus of Ito: novel genetic mutations and a review of the literature on cutaneous malignant transformation of dermal melanocytosis.

Tse JY et al.

Journal of Cutaneous Pathology, 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

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25503501 (PubMed )
Supplement: NIHMS641969-supplement-Supplementary_Table_1.xls › Sheet1
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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."