ArticleInternational journal of clinical oncology2022
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Article in International journal of clinical oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.Clinical and translational gastroenterology · 2025Trial
- ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).European journal of human genetics : EJHG · 2026Article
- Breast Cancer with a Newly Diagnosed Variant in theSurgical case reports · 2025Article
- Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.Frontiers in surgery · 2022Article
- A Patient with Transverse Colon Cancer Complicated by Cowden Syndrome Administered FOLFOXIRI + Bevacizumab Therapy.Case reports in gastroenterologyArticle
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Authors and funding
25 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. However, no detailed data on CS in Asian patients nor genotype-phenotype correlation have been reported.
methodsWe performed the first Japanese nationwide questionnaire survey on CS and obtained questionnaire response data on 49 CS patients.
resultsPatients included 26 females (median age 48 years). The incidence of breast, thyroid, endometrium, and colorectal cancer was 32.7%, 12.2%, 19.2% (among females), and 6.1%, respectively. The incidence of any cancers was relatively high among all patients (46.9%, 23/49), and particularly female patients (73.1%, 19/26), compared with previous reports from Western countries. Gastrointestinal (GI) polyps were more frequently found throughout the GI tract compared with previous studies. PTEN variants were detected in 95.6% (22/23) of patients; 12 in the N-terminal region (11 in phosphatase domain) and 10 in the C-terminal (C2 domain) region. The incidence of cancer in the C2 domain group was significantly higher than in the N-terminal region (phosphatase) group. All female patients with C2 domain variant had breast cancer.
conclusionOur data suggest that Japanese patients with CS, particularly female patients and patients with C2 domain variant may have a high risk of cancers.
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