Varaico: Literature-Extracted Genetic Variants

Gene:MSR1
Variant:p.R293*
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MSR1

NM_138715.3:p.R293*

Associated Papers

Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.

Alzogaray V

Clinical Genetics, 2026

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.

Ingley KM et al.

Npj Genomic Medicine, 2024

Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.

Rosner G et al.

Clinical and Translational Gastroenterology, 2024

Role of macrophage scavenger receptor 1 in the progression of dyslipidemia in acne vulgaris patients.

AbdElneam AI et al.

Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2023

Exome sequencing reveals heterogeneous clonal dynamics in donor cell myeloid neoplasms after stem cell transplantation.

Suárez-González J et al.

Haematologica, 2020

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.

Chernock RD et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

31937902 (PubMed )
Supplement: NIHMS1547622-supplement-2.xlsx › S_Table_6

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

Whole genome sequencing and rare variant analysis in essential tremor families.

Odgerel Z et al.

Plos One, 2019

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

Function of macrophage scavenger receptor 1 gene polymorphisms in chronic obstructive pulmonary disease with and without lung cancer in China.

Xie L et al.

Oncology Letters, 2018

The molecular biology of prostate cancer: current understanding and clinical implications.

Gandhi J et al.

Prostate Cancer and Prostatic Diseases, 2018

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S13_CC-3_coding_SNVs

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM2_ESM.xlsx › Table_S5

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Dale B et al.

Npj Genomic Medicine, 2017

29263838 (PubMed )
Supplement: 41525_2017_31_MOESM3_ESM.xlsx › Sheet1

Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia.

Fecteau RE et al.

Jama Oncology, 2016

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Zemankova P et al.

Clinical Genetics, 2016

Genetic predisposition to gastric cancer.

Petrovchich I et al.

Seminars in Oncology, 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S4.xlsx › Foglio1

The P275A Polymorphism in the Macrophage Scavenger Receptor 1 Gene and Prostate Cancer Risk: a Meta-Analysis.

Zhou QX et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

Genetic analysis of the principal genes related to prostate cancer: a review.

Alvarez-Cubero MJ et al.

Urologic Oncology, 2013

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Haiman CA et al.

Plos Genetics, 2013

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Thompson ER et al.

Plos Genetics, 2012

23028338 (PubMed )
Supplement: pgen.1002894.s003.xlsx › Table_S2_Exome_variants

Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

Orloff M et al.

Jama, 2011

Scavenger receptor AI/II truncation, lung function and COPD: a large population-based study.

Thomsen M et al.

Journal of Internal Medicine, 2011

MSR1 variants and the risks of prostate cancer and benign prostatic hyperplasia: a population-based study in China.

Hsing AW et al.

Carcinogenesis, 2007

Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.

Cybulski C

Hereditary Cancer in Clinical Practice, 2007

SNPs associated with prostate cancer risk and prognosis.

Naylor SL

Frontiers in Bioscience : a Journal and Virtual Library, 2007

DNA variation in MSR1, RNASEL and E-cadherin genes and prostate cancer in Poland.

Cybulski C et al.

Urologia Internationalis, 2007

Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway.

Lindström S et al.

The Prostate, 2006

Genetic linkage and association analysis of COPD-related traits on chromosome 8p.

Hersh CP et al.

Copd, 2006

Meta-analysis of association of rare mutations and common sequence variants in the MSR1 gene and prostate cancer risk.

Sun J et al.

The Prostate, 2006

Prevalent mutations in prostate cancer.

Dong JT

Journal of Cellular Biochemistry, 2006

Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.

Noonan-Wheeler FC et al.

The Prostate, 2006

Germline mutations of the MSR1 gene in prostate cancer families from Germany.

Maier C et al.

Human Mutation, 2006

Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.

Rennert H et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer.

Hope Q et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Analysis of the macrophage scavenger receptor 1 gene in Swedish hereditary and sporadic prostate cancer.

Lindmark F et al.

The Prostate, 2004

Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer.

Nupponen NN et al.

Genes, Chromosomes & Cancer, 2004

Germ-line alterations in MSR1 gene and prostate cancer risk.

Seppälä EH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2003

No association of germline alteration of MSR1 with prostate cancer risk.

Wang L et al.

Nature Genetics, 2003

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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."