ArticleThe Journal of clinical endocrinology and metabolism2014
Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Review
- Article
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Article
- Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.Genes · 2019Review
- Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?Hormones (Athens, Greece) · 2017Article
- REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2016Article
- Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.Oncology letters · 2015Article
- RASAL1 in thyroid cancer: promise from a new friend.The Journal of clinical endocrinology and metabolism · 2014Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
contextRASAL1 has recently been identified as an important tumor suppressor for sporadic thyroid tumorigenesis, particularly for follicular thyroid cancer (FTC) and anaplastic thyroid cancer. Thyroid cancer is an important component of Cowden syndrome (CS). Patients with germline PTEN mutations have an overrepresentation of FTC over other histological subtypes.
objectiveTo determine the prevalence of germline RASAL1 mutations in PTEN mutation-positive and wild type CS patients. SETTING AND
designWe reviewed our prospective database of more than 3000 CS/CS-like patients and retrospectively identified a subset of patients who presented with thyroid cancer for RASAL1 mutation analysis. We reviewed data from The Cancer Genome Atlas (TCGA) sporadic papillary thyroid cancer (PTC) database with germline data for RASAL1 mutations to determine the prevalence of germline RASAL1 mutations in CS-related thyroid cancer patients.
resultsWe scanned 155 CS/CS-like patients with thyroid cancer for germline RASAL1 mutations. Of the 155 patients, 39 had known germline pathogenic PTEN mutations (PTEN(mut+)) and 116 were PTEN mutation negative (PTEN(WT)). Among these 155 patients, we identified RASAL1 germline alterations suspected as being deleterious in two patients. Both were patients with PTEN(WT) who had FTC (2/48, 4.1%). This was in contrast to patients with PTEN(mut+) who had thyroid cancer (0/39). Of 339 sporadic patients with PTC from the TCGA study, 62 (18%) had germline RASAL1 variants predicted to be deleterious. TCGA patients with follicular-variant PTC were statistically overrepresented (21/62, 34%) among patients with deleterious RASAL1 variants compared with those without (57/277, 21%).
conclusionsGermline RASAL1 alterations are uncommon in patients with CS but may not be infrequent in patients with apparently sporadic follicular-variant PTC.
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