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

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Budryk M., Tęcza K., Grzybowska E.
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issue 10
453-456
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.
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