Evidence map›Paper›PMID 24677027›Full record

ArticleFamilial cancer2014

Fertility and apparent genetic anticipation in Lynch syndrome.

Douglas Stupart, Aung Ko Win, Mark Jenkins, Ingrid M Winship, Paul Goldberg, Rajkumar Ramesar

Open access · greenAbstract read
In one paragraph

Article in Familial cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 45% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome.Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland · 2015
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 2 countries.

Douglas StupartDeakin University Department of Surgery, Geelong Hospital, Ryrie Street, Geelong, VIC, 3227, Australia, DouglasStupart@yahoo.co.uk.
Aung Ko Win
Mark Jenkins
Ingrid M Winship
Paul Goldberg
Rajkumar Ramesar
University of Cape Town · ZAUniversity of Melbourne · AUGeelong Hospital · AUThe Royal Melbourne Hospital · AU

Funding

Colon Cancer Family Registry CohortUM1CA167551 · NCI · STANFORD UNIVERSITY · PI HAILE, ROBERT WILLIAM, JENKINS, MARK A · 2013 to 2017
$11.3M
AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYU01CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2002 to 2007
$6.9M
The Colon Cancer Family Registry: AustralasiaU24CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2008 to 2011
$6.2M
NCI NIH HHS U01 CA097735NCI NIH HHS U24 CA097735NCI NIH HHS UM1 CA167551
6 · The paper itself

Abstract

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.

Indexed as

Age of OnsetAnticipation, GeneticFertilityAdultColorectal Neoplasms, Hereditary NonpolyposisComputer SimulationFemaleHumansMaleMiddle Aged

Identifiers

PMID24677027
PMCPMC4357528
OpenAlexW1971458071

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.