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Anticipation (genetics)

About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.


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TL;DR: An Austrian family with HNPCC, which was diagnosed by clinical criteria (Amsterdam I), was possible, with frequent colonoscopy screening, to detect an early-stage tumour localised in the coecum and there is evidence for genetic anticipation.
Abstract: In this study we present an Austrian family with HNPCC, which was diagnosed by clinical criteria (Amsterdam I). Subsequent to the diagnosis, genetic counselling and testing was offered to all family members. A causal mutation was detected in exon 12 of the MLH1 gene by determining the genomic sequence. The mutation had resulted in the deletion of an adenine nucleotide at position 1343 (c.1343delA; respective cDNA NCBI accession number: NM_000249), creating a new reading frame (p.E448fs). Within this pedigree it was possible, with frequent colonoscopy screening, to detect an early-stage tumour localised in the coecum. Furthermore, there is evidence for genetic anticipation. The median ages at diagnosis of colorectal cancer decreased from 51.5 in the second generation to 33.5 in the third generation.
Journal ArticleDOI
TL;DR: In this paper, the role of defensive reactivity to anticipated unpleasant symptoms in panic disorder was investigated in 73 patients with a primary diagnosis of panic disorder with agoraphobia and 52 healthy controls (HC).

Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202116
202013
201911
201818
201716
201615