Fertility and apparent genetic anticipation in Lynch syndrome

Stupart,D, Win,AK, Jenkins,M, Winship,IM, Goldberg,P and Ramesar,R 2014, Fertility and apparent genetic anticipation in Lynch syndrome, Familial cancer, vol. 13, no. 3, pp. 369-374, doi: 10.1007/s10689-014-9714-7.

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Title Fertility and apparent genetic anticipation in Lynch syndrome
Author(s) Stupart,D
Journal name Familial cancer
Volume number 13
Issue number 3
Start page 369
End page 374
Publisher Springer
Place of publication Amsterdam, Netherlands
Publication date 2014-09
ISSN 1573-7292
Keyword(s) Fertility
Genetic anticipation
Lynch syndrome
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Summary Genetic anticipation is the phenomenon in which age of onset of an inherited disorder decreases in successive generations. Inconsistent evidence suggests that this occurs in Lynch syndrome. A possible cause for apparent anticipation is fecundity bias, which occurs if the disease adversely affects fertility. The purpose of this study was to determine the effect of age of diagnosis of colorectal cancer (CRC) on lifetime fertility in Lynch syndrome, and whether this can falsely create the appearance of genetic anticipation. A computer model simulated age of diagnosis of CRC in hypothetical Lynch syndrome carriers and their offspring. The model assumed similar age distribution of CRC across generations (i.e. that there was no true anticipation). Age distribution of CRC diagnosis, and lifetime fertility rates (grouped by age of diagnosis of CRC) were determined from the Australasian Colorectal Cancer Family Registry (ACCFR). Apparent anticipation was calculated by comparing ages of diagnosis of CRC in affected parent-child pairs. A total of 1,088 patients with CRC were identified from the ACCFR. Total lifetime (cohort) fertility was related to age of diagnosis of CRC (correlation coefficient 0.13, P = 0.0001). In the simulation, apparent anticipation was 1.8 ± 0.54 years (P = 0.0044). Observed apparent anticipation in the ACCFR cohort was 4.8 ± 1.73 years (P = 0.0064). There was no difference in apparent anticipation between the simulate d and observed parent-child pairs (P = 0.89). The appearance of genetic anticipation in Lynch syndrome can be falsely created due to changes in fertility.
Language eng
DOI 10.1007/s10689-014-9714-7
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
Persistent URL http://hdl.handle.net/10536/DRO/DU:30072034

Document type: Journal Article
Collection: School of Medicine
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