Spectrum of Cancers Diagnosed in the Families Carrying Germline Mutation in BRCA 1/2 Genes

• Authors: Magdalena Budryk , Karolina Tęcza , Ewa Grzybowska
• Languages of publication: EN

Abstracts

EN

The aim of the genetic tests and counseling done at the Centre of Oncology-MSC Institute in Gliwice is to screen for the carriers of germline mutations in BRCA1 and BRCA2 genes who belong to the group of high risk of developing malignancy.Material and methods. The risk of breast and/or ovary cancer among the carriers of germline mutations in BRCA1 and 2 genes is 40-90%. The patients are qualified to genetic test for HBOC syndrome not only according to the family history of cancers criteria which allow to find families with high risk of developing cancer.Results. At Genetic Counseling we find mutations in 5% of persons referred to genetic tests. Germline mutations were also found in families which did not meet clinical criteria for HBOC.Conclusion. These findings justify the need to screen for BRCA mutations also persons without strong family history of breast and ovary cancers.

Keywords

EN

BRCA1 and BRCA2; germline mutations; clinical criteria; hereditary cancers

• Publisher: Index Copernicus International
• Journal: Polish Journal of Surgery
• Year: 2009
• Volume: 81
• Issue: 10
• Pages: 453-456

Dates

published

1 - 10 - 2009

online

25 - 11 - 2009

Contributors

author

Magdalena Budryk

• Genetic Counseling, Outpatients Clinics, M. Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice

author

Karolina Tęcza

• Laboratory of Cancer Genetics, Department of Molecular Biology, M. Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice

author

Ewa Grzybowska

• Laboratory of Cancer Genetics, Department of Molecular Biology, M. Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice

References

• Jasińska A, Krzyżosiak W: BRCA1 i BRCA2 - geny dziedzicznych form raka piersi. Postępy Biologii Komórki 1998; 25: 93-103.
• Lubiński J, Górski B, Kurzawski G: i wsp.: Genetyka we wczesnej diagnostyce nowotworów. Współ Onkol 2000; 4: 186-89.
• Ottini L, Palli D, Rizzo S et al.: Male breast cancer. Crit Rev Oncol Hematol 2009 [Epub ahead of print]
• Nicoletto MO, Donach M, De Nicolo A et al.: BRCA-1 and BRCA-2 mutations as prognostic factors in clinical practice and genetic counseling. Cancer Treat Rev 2001; 27(5): 295-304.[Crossref][PubMed]
• Gruber S, Petersen G: Cancer Risks in BRCA1 Carriers: Time for the Next Generation of Studies. J Natl Cancer Inst 2002; 94: 1344-45.

Identifiers

DOI

10.2478/v10035-009-0074-1