Title |
PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood
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Published in |
Clinical Cancer Research, June 2017
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DOI | 10.1158/1078-0432.ccr-17-0629 |
Pubmed ID | |
Authors |
Kris Ann P. Schultz, Surya P. Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D. Wasserman, Lisa R. Diller, Laurence Brugières, Harriet Druker, Katherine A. Schneider, Rose B. McGee, William D. Foulkes |
Abstract |
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years. DICER1 syndrome includes risk for pleuropulmonary blastoma, cystic nephroma, ovarian sex cord-stromal tumors, and multinodular goiter and thyroid carcinoma as well as brain tumors including pineoblastoma and pituitary blastoma. Individuals with HLRCC may develop multiple cutaneous and uterine leiomyomas, and they have an elevated risk of renal cell carcinoma. For each of these syndromes, a summary of the key syndromic features is provided, the underlying genetic events are discussed, and specific screening is recommended. Clin Cancer Res; 23(12); e76-e82. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
China | 1 | 33% |
United States | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 136 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 25 | 18% |
Researcher | 20 | 15% |
Student > Postgraduate | 14 | 10% |
Student > Ph. D. Student | 11 | 8% |
Student > Bachelor | 8 | 6% |
Other | 29 | 21% |
Unknown | 29 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 71 | 52% |
Biochemistry, Genetics and Molecular Biology | 15 | 11% |
Nursing and Health Professions | 4 | 3% |
Agricultural and Biological Sciences | 4 | 3% |
Chemistry | 2 | 1% |
Other | 4 | 3% |
Unknown | 36 | 26% |