Balanced Translocation of 10q and 13q, Including the PTENGene, in a Boy with a Human Chorionic Gonadotropin-Secreting Tumor and the Bannayan-Riley-Ruvalcaba Syndrome

Author:

Ahmed S. Faisal1,Marsh Debbie J.23,Weremowicz Stanislawa4,Morton Cynthia C.4,Williams Denise M.1,Eng Charis523

Affiliation:

1. Department of Pediatrics (S.F.A., D.M.W.), United Kingdom CB2 2QQ

2. Clinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center (D.J.M., C.E.), Columbus, Ohio 43210

3. Charles A. Dana Human Cancer Genetics Unit, Dana-Farber Cancer Institute, Harvard Medical School (D.J.M., C.E.), Boston, Massachusetts 02115

4. Cytogenetics Laboratory, Departments of Pathology and Obstetrics, Brigham and Women’s Hospital and Harvard Medical School (S.W., C.C.M.), Boston, Massachusetts 02115

5. Cancer Research Campaign Human Cancer Genetics Research Group (C.E.), University of Cambridge, Cambridge, United Kingdom CB2 2QQ

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference43 articles.

1. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome.;Arch Pathol,1971

2. Bannayan-Riley-Ruvalcaba syndrome.;Gorlin;Am J Med Genet,1992

3. Macrocephaly with multiple lipomas and hemangiomas.;Zonana;J Paediatr,1976

4. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.;Zori;Am J Med Genet,1998

5. Cowden syndrome.;Hanssen;J Med Genet,1995

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1. A systematic review of Bannayan – Riley – Ruvalcaba syndrome;Scientific Reports;2024-09-10

2. PTENHamartoma tumor syndrome in childhood: A review of the clinical literature;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2019-10-14

3. Constipation, polyps, or cancer? letPTEN predict your future;American Journal of Medical Genetics;2003-09-24

4. PTEN: One Gene, Many Syndromes;Human Mutation;2003-08-18

5. Role of PTEN, a Lipid Phosphatase Upstream Effector of Protein Kinase B, in Epithelial Thyroid Carcinogenesis;Annals of the New York Academy of Sciences;2002-06

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