Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.R439*
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BRIP1

NM_032043.3:p.R439*

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.

Guan X et al.

Bmc Cancer, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_2.

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Germline Genetic Mutations in Adult Patients with Sarcoma: Insight into the Middle East Genetic Landscape.

Abu-Hijlih R et al.

Cancers, 2024

38730621 (PubMed )
Supplement: cancers-16-01668-s001.zip › Table_Suppl_2.pdf

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.

Zhang C et al.

Journal of Medical Genetics, 2023

Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.

Long G et al.

Scientific Reports, 2023

36932143 (PubMed )
Supplement: 41598_2023_31109_MOESM2_ESM.xlsx › table

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3C

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM4_ESM.xlsx › Sheet1

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Turchiano A et al.

Cancers, 2022

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

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

Calvo JA et al.

Molecular Cancer Research : Mcr, 2021

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.

Feng Z et al.

Annals of Translational Medicine, 2021

Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Argyropoulos KV et al.

Blood Cancer Journal, 2020

33168809 (PubMed )
Supplement: 41408_2020_380_MOESM3_ESM.xlsx › Sheet1

Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Lang GT et al.

Annals of Translational Medicine, 2020

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T et al.

Npj Breast Cancer, 2020

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

Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Lin PC et al.

Scientific Reports, 2019

30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM3_ESM.xlsx › Supp_Table_2

Individualized drug screening based on next generation sequencing and patient derived xenograft model for pancreatic cancer with bone metastasis.

Guan Z et al.

Molecular Medicine Reports, 2017

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

Frey MK et al.

Gynecologic Oncology, 2017

Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

Frey MK et al.

Gynecologic Oncology, 2015

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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."