ArticleCancer discovery2014
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Article in Cancer discovery, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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32 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.Frontiers in pediatrics · 2025Article
- Unraveling the role of coagulation-related genes in esophageal squamous cell carcinoma: development of a prognostic model and exploration of potential clinical significance.Frontiers in oncology · 2025Article
- The role of Golgi complex proteins in cell division and consequences of their dysregulation.Frontiers in cell and developmental biology · 2024Review
- Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.NPJ genomic medicine · 2023Article
- Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.American journal of human genetics · 2022Article
- Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.Cancer treatment reviews · 2022Review
- Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Article
- Identification of Prognostic and Chemopredictive microRNAs for Non-Small-Cell Lung Cancer by Integrating SEER-Medicare Data.International journal of molecular sciences · 2021Article
- A Population-Based Study of Genes Previously Implicated in Breast Cancer.The New England journal of medicine · 2021Article
- Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.Genes, chromosomes & cancer · 2021Article
- Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?International journal of molecular sciences · 2020Review
- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.High-throughput · 2020Review
- RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis.Frontiers in cell and developmental biology · 2020Article
- RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.American journal of human genetics · 2019Article
- Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.International journal of cancer · 2019Article
- Article
- Collaborating genomic, transcriptomic and microbiomic alterations lead to canine extreme intestinal polyposis.Oncotarget · 2018Article
- Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.Journal of translational medicine · 2018Article
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37 authors at 14 institutions in 6 countries.
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Abstract
unlabelledApproximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del (p.M378del), and c.1207G>T (p.D403Y). On the basis of this finding, a population-based case-control mutation-screening study was conducted that identified 29 carriers of rare (minor allele frequency < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and six in 1,123 frequency-matched controls [OR, 3.24; 95% confidence interval (CI), 1.29-8.17; P = 0.013]. RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified four additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women carrying RINT1 mutations estimated that carriers were at increased risk of Lynch syndrome-spectrum cancers [standardized incidence ratio (SIR), 3.35; 95% CI, 1.7-6.0; P = 0.005], particularly for relatives diagnosed with cancer under the age of 60 years (SIR, 10.9; 95% CI, 4.7-21; P = 0.0003). SIGNIFICANCE: The work described in this study adds RINT1 to the growing list of genes in which rare sequence variants are associated with intermediate levels of breast cancer risk. Given that RINT1 is also associated with a spectrum of cancers with mismatch repair defects, these findings have clinical applications and raise interesting biological questions.
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