ReviewClinical genetics2021
A review on age-related cancer risks in PTEN hamartoma tumor syndrome.
Review in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Dysmorphic syndromes with overgrowth - systematic review. Part 1 - monogenic syndromes.Pediatric endocrinology, diabetes, and metabolism · 2025Pooled it
- Cervicovaginal specimen biomarkers for early detection of ovarian and endometrial cancer: A review.Cancer medicine · 2024Pooled it
- Breast cancer in previously thyroidectomized patients: which thyroid disorders are a risk factor?Future science OA · 2021Trial
- Breast-Ovarian Hereditary Cancer Syndrome: BeyondCurrent oncology (Toronto, Ont.) · 2026Review
- Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes.European journal of human genetics : EJHG · 2026Article
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.Virchows Archiv : an international journal of pathology · 2026Review
- Bannayan-Riley-Ruvalcaba syndrome, etiology, clinical manifestations, diagnostic approaches, and current therapeutic measures: a narrative review.Discover oncology · 2025Review
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Atypical Manifestations of Cowden Syndrome in Pediatric Patients.Diagnostics (Basel, Switzerland) · 2025Article
- Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes.Cancers · 2025Review
- A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome-A Case Report.Pediatric reports · 2025Article
- Extended spectrum of cancers in PTEN hamartoma tumor syndrome.NPJ precision oncology · 2025Article
- Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.International dental journal · 2024Article
- [Thyroid cancer in a child with Cowden syndrome].Problemy endokrinologii · 2024Article
- The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.Cancer research · 2024Article
- Progress report: Peutz-Jeghers syndrome.Familial cancer · 2024Review
- Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.Medicina (Kaunas, Lithuania) · 2024Review
- Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).Cancers · 2024Article
- Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with PTEN hamartoma tumor syndrome (PHTS, comprising Cowden, Bannayan-Riley-Ruvalcaba, and Proteus-like syndromes) are at increased risk of developing cancer due to pathogenic PTEN germline variants. This review summarizes age-, sex-, and type-specific malignant cancer risks for PHTS patients, which is urgently needed for clinical management. A PubMed literature search for Standardized Incidence Ratios or Cumulative Lifetime cancer risks (CLTRs) resulted in nine cohort studies comprising four independent PHTS cohorts, including mainly index cases and prevalent cancer cases. The median age at diagnosis was 36 years. Reported CLTRs for any cancer varied from 81% to 90%. The tumor spectrum included female breast cancer (CLTRs including sex-specific estimates at age 60-70: 67% to 85%), endometrium cancer (19% to 28%), thyroid cancer (6% to 38%), renal cancer (2% to 24%), colorectal cancer (9% to 32%), and melanoma (0% to 6%). Although these estimates provide guidance for clinical care, discrepancies between studies, sample sizes, retrospective designs, strongly ascertained cases, and lack of pediatric research emphasizes that data should be interpreted with great caution. Therefore, more accurate and more personalized age-, sex-, and cancer-specific risk estimates are needed to enable counseling of all PHTS patients irrespective of ascertainment, and improvement of cancer surveillance guidelines.
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