Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population
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To the Editor,
It is well known that the pathogenic mutations in BRCA1 or BRCA2 genes are detected in 5–10% of total breast (BC) and ovarian cancer (OC) and in 20–30% of BC/OC found in families with strong history of cancer . However, the incidence of the BRCA1 and BRCA2 pathogenic mutations depends on the criteria adopted to select the families to be studied , and the mutation spectrum varies considerable due to the influence of the ethnic groups . In addition, ethnicity could substantiate the appearance of founder mutations coming from an old ancestor such as the recurrent mutations detected among Ashkenazim [4, 5].
The Program of Genetic Counselling in Cancer of Valencia Community was launched in March 2005 and we reported the results of the first 147 nonrelated families included, describing the preliminary mutational spectrum  and novel mutations . However, since then, the number of subjects studied for BRCA1 and BRCA2mutations has increased considerably having...
KeywordsGenetic Counselling BRCA2 Mutation Deleterious Mutation Frameshift Mutation Pathogenic Mutation
We express our gratitude to the “Fundación para la Investigación del Hospital Universitario La Fe” for granting two contracts for Inmaculada de Juan and Sarai Palanca (Bch Sc Specialist in Clinical Analysis), which made possible their participation in this study. We also express our gratitude to the support given by the Instituto de Salud Carlos III, grant PI060505, and the Generalitat Valenciana, grants AP-042/07 and EVES 100/2008.
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