Last Posted: Mar 06, 2023
- Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia Lamis, et al. PLoS genetics 2018 0 (4) e1007352
- Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
Yehia Lamis, et al. American journal of human genetics 2019 0 (4) 813-821
- A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
Tan Min-Han, et al. American journal of human genetics 2011 0 (1) 42-56
- Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury Anna Ray, et al. Thyroid : official journal of the American Thyroid Association 2010 0 (2) 135-44
- Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Golas Monika M, et al. American journal of medical genetics. Part A 2019 5
- CLINGEN Actionability Report for PTEN Hamartoma Tumor Syndrome - Cowden Syndrome-PTEN
ClinGen Actionability Working Group
- Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
Yehia Lamis, et al. NPJ genomic medicine 2017 0 37
- Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow Joanne, et al. Breast cancer research and treatment 2015 12
- An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.
Sandell S, et al. British journal of cancer 2013 2 (2) 438-41
- Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski Robert, et al. Journal of medical genetics 2011 8 (8) 505-12
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 09, 2023
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