Germline PTEN Mutation in a family with cowden syndrome and bannayan-riley-ruvalcaba syndrome

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 399-402

  Zori, Roberto T ^a   Marsh, Debbie J ^b   Graham, Gail E ^c   Marliss, Errol B ^d   Eng, Charis ^e  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b Department of Adult Oncology   (United States)

^c UNIVERSITY OF CALGARY   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Bannayan zonana syndrome; Bannayanriley ruvalcaba syndrome; Cowden disease; Polyposis; PTEN; Ruvalcaba myhre syndrome; Thyroid cancer

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COWDEN SYNDROME; GENETIC ANALYSIS; HUMAN; MALE; NONSENSE MUTATION; POLYPOSIS; PRIORITY JOURNAL; SYNDROME DELINEATION; THYROID CANCER;

ADOLESCENT; FAMILY HEALTH; GASTROINTESTINAL DISEASES; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; LEARNING DISORDERS; MALE; PHOSPHORIC MONOESTER HYDROLASES; PIGMENTATION DISORDERS; PTEN PHOSPHOHYDROLASE; SYNDROME; THYROID DISEASES; TUMOR SUPPRESSOR PROTEINS;

EID: 0031741226     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19981204)80:4<399::aid-ajmg18>3.0.co;2-o     Document Type: Article

References (9)

1. Cohen MM (1990): Bannayan-Riley-Ruvalcaba syndrome: Renaming three syndromes as one etiologic entity. Am J Med Genêt 35:291.
2. Eng C (1997): Cowden syndrome. J Genet Counsel 6:181-191.
3. Hanssen AMN, Werquin H, Suys E, Fryns JP (1993): Cowden syndrome: Report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet 44:281-286.
4. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Böse S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R (1997): Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64-67.
5. Marsh DJ, Dahia PLM, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C (1997): Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 16:333-334.
6. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressiux JM, Cabarrot-Morreau A, Chompret A, Démange L, Eeles RA, Yahanda AM, Fearon ER, Flicker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade 01, Sobol H, Tishler S, Woods CG, Robinson EG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C (1998): Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515.
7. Marsh DJ, Dahia PLM, Caron S, Kum JB, Frayling IM, Tomlinson 1PM_ Hughes KS, Hodgson SV, Murday VA, Houlston R, Eng C (in press): Germline PTEN mutations in Cowden syndrome-like familes. J Med Genet.
8. Nelen MR, Padberg GW, Peelers EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MMM, Easton DP, Eeles RA, Hodgson S, Mulivhill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C (1996): Localization of the gene for Cowden disease to 10q22-23. Nat Genet 13:114-116.
9. Starink TM, van der Veen JPW, Arwert F, de Waal LP, de Lange GG, Gille JJP, Eriksson AW (1986): The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet 29:222-233.