ArticleFrontiers in genetics2018
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non-Medullary Thyroid Cancer Using Familial Whole-Exome-Sequencing.Clinical genetics · 2026Article
- Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.Eye (London, England) · 2025Article
- Atypical Manifestations of Cowden Syndrome in Pediatric Patients.Diagnostics (Basel, Switzerland) · 2025Article
- Early is Better: Report of a Cowden Syndrome.Global medical genetics · 2023Article
- Article
- MIB2 promotes the progression of non-small cell lung cancer by regulating cell cycle control pathways.Genes & genomics · 2023Article
- Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.BMC medical genomics · 2023Review
- Imaging evaluation of hereditary renal tumors: a pictorial review.Japanese journal of radiology · 2021Review
- Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement.BMJ case reports · 2021Article
- Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.Clinical genetics · 2021Article
- Cowden syndrome is a risk factor for multiple neoplasm: a case report.World journal of surgical oncology · 2020Article
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- Genetic Modifiers and Rare Mendelian Disease.Genes · 2020Review
- Early-onset renal cell carcinoma inNPJ genomic medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma, bilateral clear cell renal carcinoma (RC), and follicular variant of papillary thyroid carcinoma. The proband's parent developed orbital lymphoma and small intestine mucosa-associated lymphoid tissue (MALT) lymphoma between 40 and 50 years old. Whole-exome-sequencing (WES) of the nuclear family (proband, parents, and sibling) identified in the proband a
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Registered trials
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