Journal ArticleDOI
Cowden Syndrome: A Critical Review of the Clinical Literature
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TLDR
An overview of Cowden syndrome is presented focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.Abstract:
Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.read more
Citations
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Sapna Syngal,Randall E. Brand,James M. Church,Francis M. Giardiello,Heather Hampel,Randall W. Burt +5 more
TL;DR: Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers.
Journal ArticleDOI
Hereditary and Familial Colon Cancer
TL;DR: This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.
Journal ArticleDOI
Genetic/familial high-risk assessment: breast and ovarian.
Mary B. Daly,Jennifer E. Axilbund,Saundra S. Buys,Beth Crawford,Carolyn Farrell,Susan Friedman,Judy Garber,Salil Goorha,Stephen B. Gruber,Heather Hampel,Virginia Kaklamani,Wendy Kohlmann,Allison W. Kurian,Jennifer K. Litton,P. Kelly Marcom,Robert L. Nussbaum,Kenneth Offit,Tuya Pal,Boris Pasche,Robert Pilarski,Gwen Reiser,Kristen M. Shannon,Jeffrey R. Smith,Elizabeth M. Swisher,Jeffrey N. Weitzel +24 more
TL;DR: Overview All cancers develop as a result of mutations in certain genes, such as those involved in the regulation of cell growth and/or DNA repair, but not all of these mutations are inherited from a parent.
Journal ArticleDOI
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Robert Pilarski,Randall W. Burt,Wendy K. Kohlman,Lana Pho,Kristen M. Shannon,Elizabeth M. Swisher +5 more
TL;DR: It is found that there is no sufficient evidence to support inclusion of benign breast disease, uterine fibroids, or genitourinary malformations as diagnostic criteria, and revised, evidence-based diagnostic criteria are proposed covering the spectrum of PTEN-related clinical disorders.
Journal ArticleDOI
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
Min-Han Tan,Jessica Mester,Jessica Mester,Charissa Peterson,Charissa Peterson,Yi-Ran Yang,Yi-Ran Yang,Jin Lian Chen,Jin Lian Chen,Lisa Rybicki,Lisa Rybicki,Kresimira Milas,Holly J. Pederson,Berna K. Remzi,Mohammed S. Orloff,Mohammed S. Orloff,Charis Eng +16 more
TL;DR: The first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing is presented, further supported biologically by protein correlation.
References
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