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

stressed that, amongst those sporadic cases of under-40s, that is a especially rare condition: only in one case was a pathological mutation found. This is why she suggested discarding under-35s in this type of research, and in which case the result arrived at in her study rises from 10 % to 12 %. In any case, the percentages of pathological mutations found in this genetic study of the CAPV-EAE population turned out to be less than amongst other European populations.

The study has thrown up more data regarding age. For example, the percentages show that, for family-member carriers of mutation in the main genes under study, the accumulated risk of suffering breast cancer at 70 is 69 % for the BRCA1 and 67 % for the BRCA2. This means that penetration is not complete and there exists the possibility that this gene does not, in the end, express itself. As regards the data on gender, it is significant that masculine breast cancer is mainly associated with mutations in the BRCA2 gene.

Different mutations in the Autonomous Community of the Basque Country

The variability from population to population in mutations in general is also clear from the results of this thesis. Ms Beristain explained that a great number of alterations, hitherto unrecorded, have been found, and from this she concludes that many of the mutations found in the CAPV-EAE are different from those described for other populations. However, she explains, amongst these, no founder effect mutation was found, i.e. there has been no case of some, many or all Basque patients coming from a small population of individuals having transmitted this common genetic characteristic to all their descendents. However it may be, the new types of mutations found represent a contribution to the already existing variability.


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Contact: Amaia Portugal
a.portugal@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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