No evidence of genetic anticipation in a large family with Lynch syndrome.

Stupart,D, Goldberg,P, Algar,U, Vorster,A and Ramesar,R 2014, No evidence of genetic anticipation in a large family with Lynch syndrome., Familial Cancer, vol. 13, no. 1, pp. 29-34, doi: 10.1007/s10689-013-9669-0.

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Title No evidence of genetic anticipation in a large family with Lynch syndrome.
Author(s) Stupart,DORCID iD for Stupart,D
Journal name Familial Cancer
Volume number 13
Issue number 1
Start page 29
End page 34
Publisher Springer Verlag
Place of publication Netherlands
Publication date 2014-03
ISSN 1573-7292
Keyword(s) Anticipation
Colorectal cancer
Lynch syndrome
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Summary Lynch syndrome is the commonest inherited cause of colorectal cancer (CRC). Genetic anticipation occurs when the age of onset of a disorder decreases in successive generations. It is controversial whether this occurs in Lynch syndrome. Previous studies have included heterogenous groups of subjects from multiple families, including subjects with a clinical diagnosis (based on family history) as well as those with proven germline mismatch repair gene mutations. The purpose of this study was to determine whether genetic anticipation occurs in mismatch repair gene carriers from a single Lynch syndrome family. This study includes members of a single family known to carry an MLH1 gene mutation who are proven germline mutation carriers or obligate carriers (based on their offspring's mutation status). Evidence of genetic anticipation (determined by age of onset of first CRC) was sought in two ways: Firstly, subjects were grouped as parent-child pairs and individuals were compared with their own offspring; secondly they were grouped by generation within the family tree. The Kaplan-Meier technique was used to adjust for variable follow up times. The family tree consisted of 714 subjects. Ninety-two subjects over five generations were included in the study. There was no evidence of genetic anticipation over the generations. (P = 0.37). Similarly, in the 75 parent-child pairs identified, age of onset of CRC was similar for parents and children (P = 0.51). We could not identify any evidence of genetic anticipation in mutation carriers from a single family with Lynch syndrome.
Language eng
DOI 10.1007/s10689-013-9669-0
Field of Research 119999 Medical and Health Sciences not elsewhere classified
Socio Economic Objective 929999 Health not elsewhere classified
HERDC Research category C1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2014, Springer
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Document type: Journal Article
Collections: Faculty of Health
School of Medicine
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