Jadwiga Rogozińska-Szczepka

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Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR(More)
INTRODUCTION Cancer-associated retinopathy (CAR) is a paraneoplastic neurological syndrome resulting in progressive loss of vision and clinical signs of retinal degeneration. It is associated with various types of cancer and is also considered to be an autoimmune disorder that involves cross-reaction between autoantibodies and retinal proteins. The aim of(More)
Germline mutations in BRCA1 and BRCA2 were analyzed in DNA isolated from white blood cells of patients with a family history of breast and ovarian cancers. We found one mutation in the BRCA1 gene — 300T/G missense mutation in exon 5 disrupting the zinc finger — already found in other families. In 5 families three different mutations were discovered in(More)
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