No evidence for germline PTEN mutations in families with breast and brain tumours

Germline mutations of the PTEN gene are involved in Cowden disease, a genet ic condition associated with an increased risk of breast cancer. Further so matic PTEN mutations have been found in glioblastomas and to a lesser exten t in meningiomas. Therefore, PTEN germline mutations were searched for in a series of 20 unrelated women with breast cancer who also had a personal or familial breast-brain tumour history. Inclusion criteria were I. family hi story of breast cancer; 2, absence of germline BRCAI and p53 mutation; and 3, at least one case of brain tumour (glioblastoma, meningioma, or medullob lastoma) in either the index case or one of their first or second degree re latives. Any stigmata of Cowden disease was an exclusion criteria. Screenin g of the PTEN gene for point mutations or small rearrangements were perform ed using the denaturing gradient gel electrophoresis method on the 9 coding exons. No disease-associated mutation of the PTEN gene has been detected i n our series, It is, thus, unlikely that PTEN is a significant BRCA predisp osing locus, However, one might ask whether breast cancer cases resulting f rom germline PTEN mutation could occur without any mammary histological fea ture of Cowden disease. Int. J. Cancer (Pred. Oncol) 84:216-219, 1999. (C) 1999 Wiley-Liss, Inc.