Berriz Aizkibelen Euskera eskuizkribuaz : Edizio eta iturriak

[EN] In this paper I offer a new edition of the Euskera manuscript, written by the bascologist J.F. Aizkibel in 1856. The preliminary study focuses on a survey of the sources extensively used by Aizkibel, which are mainly two: Schleicher's Die Sprachen Europas (1850 [1852]) and Champollion-Figeac's Égypte ancienne (1840). Moreover, the comparison with the sources reveals us that Aizkibel intended to adapt Schleicher’s and Champollion-Figeac's analyses to attest that Basque was originally a very ancient monosyllabic language, and that it was spoken by cultured people. Some other linguistic ideas of Aizkibel are also discussed.

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.