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Annals of Oncology 13:1899-1907, 2002
© 2002 European Society for Medical Oncology

Original Paper

BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling

G. Palmieri1,+,§, G. Palomba1, A. Cossu2, M. Pisano1, M. F. Dedola3, M. G. Sarobba4, A. Farris4, N. Olmeo5, A. Contu5, A. Pasca6, M. P. Satta1, I. Persico1, A. A. Carboni2, P. Cossu-Rocca2, M. Contini2, J. Mangion7, M. R. Stratton8 and F. Tanda2

1 Institute of Molecular Genetics, Consiglio Nazionale Ricerche, Alghero; 2 Institute of Pathology, University of Sassari; 3 Department of Radiotherapy and 4 Department of Medical Oncology, University of Sassari; 5 Department of Medical Oncology, Civil Hospital, Azienda Sanitaria Locale 1; 6 Laboratory II, Azienda Sanitaria Locale 1, Sassari, Italy; 7 Institute of Cancer Research, Sutton, Surrey; 8 Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK

Received 4 February 2002; revised 22 April 2002; accepted 13 May 2002

Background:

The Sardinian population is genetically homogeneous and could be useful in understanding better the genetics of a complex disease like breast cancer (BC).

Patients and methods:

Using a screening assay based on a combination of single-strand conformation polymorphism, denaturing high-performance liquid chromatography and sequence analysis, 47 Sardinian families with three or more BC cases were screened for germline mutations in BRCA1 and BRCA2 genes.

Results:

Three BRCA1/2 germline sequence variants were identified. While BRCA2-Ile3412Val is a missense variant with unknown functional significance, BRCA2-8765delAG and BRCA1-Lys505ter are two deleterious mutations (due to their predicted effects on protein truncation), which were found in seven families (15%). BRCA2-8765delAG was found in six of eight (75%) BRCA1/2-positive families and seven of 501 (1.4%) unselected and consecutively collected BC patients. Prevalence of BRCA1/2 mutations in BC families was significantly correlated with the total number of female BCs (P <0.01) and increased by the presence of (i) at least one case of ovarian or male BC, or (ii) three generations affected, or (iii) bilateral BC.

Conclusions:

Identification of such features should address BC patients and their families to genetic counseling and BRCA1/2 mutational analysis. In addition, this is the first report of a detailed BRCA1/2 mutation screening in Sardinia, having immediate implications for the clinical management of BC families.

Key words: BRCA1/2 genes, breast cancer, genetic counseling, genetically homogeneous population, germline mutation, polymerase chain reaction-based screening


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