20 Genotype/phenotype correlation in Russian CF patients with Leu138dup mutation
نویسندگان
چکیده
منابع مشابه
CHEK2 1100 delC mutation in Russian ovarian cancer patients
BRCA1 and BRCA2 germ-line mutations occur in a significant number of unselected ovarian cancer (OC) patients, thus making a noticeable contribution to OC morbidity. It is of interest whether CHEK2, which is frequently regarded as a third breast cancer specific gene, is also relevant to ovarian cancer pathogenesis. In this report we analyzed the presence of CHEK2 1100 delC founder mutation in 26...
متن کاملBRCA1 4153delA founder mutation in Russian ovarian cancer patients
The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early-onset and/or bilateral Russian breast cancer (BC) patients. Since literature data suggest that the 4153delA variant is more associate...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2017
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(17)30385-5