Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I171V
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BRCA1

NM_007294.4:p.I171V

Associated Papers

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.

Deugd R et al.

Diseases (basel, Switzerland), 2025

40710012 (PubMed )
Supplement: diseases-13-00222-s001.zip › diseases-3616972-supplementary.pdf

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s006.xlsx › Sheet1

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.

Lee ES et al.

Advances in Experimental Medicine and Biology, 2021

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM8_ESM.xlsx › VMMG

Inherited NBN Mutations and Prostate Cancer Risk and Survival.

Rusak B et al.

Cancer Research and Treatment, 2019

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Koczkowska M et al.

Cancers, 2018

30441849 (PubMed )
Supplement: cancers-10-00442-s001.pdf

Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.

Fostira F et al.

Breast Cancer Research and Treatment, 2018

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Stafford JL et al.

Plos One, 2017

Heterozygous p.I171V mutation of the NBN gene as a risk factor for lung cancer development.

Kałużna EM et al.

Oncology Letters, 2015

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

Kim H et al.

Familial Cancer, 2015

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

Domagala P et al.

Plos One, 2015

26083025 (PubMed )
Supplement: pone.0130393.s001.xlsx › Arkusz2

Is the NBN gene mutation I171V a potential risk factor for malignant solid tumors in children?

Nowak J et al.

Journal of Pediatric Hematology/oncology, 2011

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.

Desjardins S et al.

Bmc Cancer, 2009

I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.

Roznowski K et al.

Breast Cancer Research and Treatment, 2008

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia.

Mosor M et al.

Leukemia, 2006

Germline NBS1 mutations in families with aggregation of Breast and/or ovarian cancer from north-east Poland.

Kanka C et al.

Anticancer Research, 0

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