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Ph.D. thesis on 2 genes involved in hereditary breast and ovary cancer cases
Date:2/18/2011

This release is available in Spanish.

Between 5 % and 10 % of breast cancer cases are hereditary, arising because the patient inherits from the father or mother a mutation in a gene that is susceptible to causing the illness. BRCA1 and BRCA2 have already been identified as two of the genes to be monitored. It is estimated that 30 % of hereditary breast cancer cases are due to mutations in one of these two genes (which suggests, at the same time, that there are other genes involved, but exactly how is still unknown). In any case, few of the mutations found in BRCA1 and BRCA2 could be clearly identified as pathological. The fact is that the mutations found were numerous; their variation even depending on the population.

Biologist Elena Beristain has been investigating the CAPV-EAE population. Concretely, for her study she took 521 patients mainly from the Txagorritxu hospital in the Basque capital city of Vitoria-Gasteiz, and the Cruces hospital in Barakaldo, near Bilbao: 274 patients with breast or ovarian cancer (given that the latter is also associated with mutations in the BRCA1 and BRCA2 genes), 115 family relations of these, and another 132 women who acted as a control population. Ms Beristain molecularly characterised the BCRA1 y BCRA2 genes of these individuals; apart from the exon 10 of the CHEK2 gene, also associated with the illness. Her thesis was defended at the University of the Basque Country (UPV/EHU) and it is entitled, Genetic study amongst women resident in the CAPV-EAE with hereditary breast/ovary cancer.

Could rise to 12 %

According to the results shown, different types of variations in the genes under study have been found, including pathological ones, neutral ones and those of uncertain significance. As regards the clearly pathological mutations, the frequency is 10 %. Nevertheless, Ms Beristain
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Contact: Amaia Portugal
a.portugal@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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