Germline PTEN mutations are rare and highly penetrant

Hereditary Cancer in Clinical Practice

Volumn 4, Issue 4, 2006, Pages 177-185

  Rustad, Cecilie F ^a   Bjørnslett, Merete ^a   Heimdal, Ketil R ^a   Mæhle, Lovise ^a   Apold, Jaran ^b   Møller, Pål ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

Breast cancer; Cowden syndrome; PTEN; Thyroid cancer

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER RISK; CONGENITAL TUMOR; CONTROLLED STUDY; COWDEN SYNDROME; ENDOMETRIUM CANCER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PHENOTYPE; THYROID CANCER;

EID: 33846233078     PISSN: 17312302     EISSN: None     Source Type: Journal    
DOI: 10.1186/1897-4287-4-4-177     Document Type: Article

References (8)

1. Lloyd KM 2nd, Dennis M. Cowdens's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136-142.
2. Eng C. Cowden syndrome and related disorders. In: Morrison PJ, Hodgson SV, Haites NE (eds.). Familial Breast and Ovarian Cancer. Genetics, Screening and Management. Cambridge, UK: 2002: 22-42.
3. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222-233.
4. Longy M, Lacombe D. Cowden disease. Report of a family and review. Ann Genet 1996; 39: 35-42.
5. Eng C. Cowden syndrome. J Genet Couns 1997; 6: 181-191.
6. Hanssen AM, Fryns JR Cowden syndrome. J Med Genet 1995; 32: 117-119.
7. Merg A, Howe JR. Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet C Semin Med Genet 2004; 129: 44-55.
8. Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Moller P, King MC. Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am J Hum Genet 1997; 61: 1254-1260.