scholarly journals Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry

2017 ◽  
Vol 5 (6) ◽  
pp. 700-708
Author(s):  
Mercy Y. Laurino ◽  
Anjali R. Truitt ◽  
Lederle Tenney ◽  
Douglass Fisher ◽  
Noralane M. Lindor ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Cancer Family ◽  
Research Participants ◽  
Clinical Verification ◽  
Colon Cancer Family Registry ◽  
Genetic Results

scholarly journals How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

2013 ◽  
Vol 5 (2) ◽  
pp. 99-108 ◽  
Author(s):  
Louise A. Keogh ◽  
◽  
Douglass Fisher ◽  
Sherri Sheinfeld Gorin ◽  
Sheri D. Schully ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Cancer Family ◽  
Colon Cancer Family Registry ◽  
Genetic Results

scholarly journals Long-term weight loss after colorectal cancer diagnosis is associated with lower survival: The Colon Cancer Family Registry

Cancer ◽  
2017 ◽  
Vol 123 (23) ◽  
pp. 4701-4708 ◽  
Author(s):  
Jonathan M. Kocarnik ◽  
Xinwei Hua ◽  
Sheetal Hardikar ◽  
Jamaica Robinson ◽  
Noralane M. Lindor ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Weight Loss ◽  
Cancer Diagnosis ◽  
Cancer Family ◽  
Lower Survival ◽  
Colon Cancer Family Registry

scholarly journals Genetic variation inUGTgenes modify the associations of NSAIDs with risk of colorectal cancer: Colon cancer family registry

2014 ◽  
Vol 53 (7) ◽  
pp. 568-578 ◽  
Author(s):  
Dominique Scherer ◽  
Lisel M. Koepl ◽  
Elizabeth M. Poole ◽  
Yesilda Balavarca ◽  
Liren Xiao ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Genetic Variation ◽  
Cancer Family ◽  
Colon Cancer Family Registry ◽  
Cancer Côlon

Implications of generating genetic test results for colon cancer in the international, population-based colon cancer family registry.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 3567-3567
Author(s):  
Louise A. Keogh ◽  
Douglass Fisher ◽  
Sherri Sheinfeld Gorin ◽  
Sheri D Schully ◽  
Jan Lowery ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Genetic Test ◽  
Germline Mutations ◽  
Population Based ◽  
Test Results ◽  
Cancer Family ◽  
Genetic Test Results ◽  
Mutyh Gene ◽  
The Us ◽  
Colon Cancer Family Registry

3567 Background: The ability to genotype large numbers of people rapidly and inexpensively for research purposes highlights the need to develop guidelines for providing medically-relevant research results - including unanticipated findings - to study participants. The Colon Cancer Family Registry (C-CFR) is the oldest and largest international colon cancer population-based registry; its experience managing genetic research findings can offer guidance to clinicians and researchers. The C-CFR has enrolled 10,019 cases with colon cancer and 24,708 family members in six registries in the US, Canada, Australia, and New Zealand. Deleterious (“high risk”) germline mutations have been identified in DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) and the MutYH gene. The aims of this presentation are to: (1) report the uptake of genetic test results by C-CFR participants; (2) systematically compare disclosure protocols and barriers to uptake by registry; (3) make recommendations to guide clinicians and researchers. Methods: Uptake of genetic test results was calculated from data collected by the C-CFR; key investigators (KIs) from each registry completed a survey about disclosure decision-making; KIs also took part in discussions to generate recommendations. Results: Registry-wide molecular testing has identified deleterious MMR germline mutations for at least one member of 424 families (4%) and 48 biallelic MutYH gene carriers. Uptake of test results ranged from 56-86% (n= 1542) across registries. Barriers to disclosure include: (1) lack of pre-existing notification protocols; (2) logistics of re-consent; (3) limited involvement of genetic counselors at some registries; (4) in the US, the requirement that genetic testing be performed in a CLIA approved laboratory; (5) IRBs declining approval; and (6) budget constraints. Conclusions: Based on our international registry’s findings we recommend that researchers generating genetic information establish plans for disclosure at the outset; obtain subject consent a priori; consider subject knowledge and disclosure preferences; provide guidance and budget for clinical follow-up; and involve genetic counselors.

scholarly journals Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry

PLoS ONE ◽  
2013 ◽  
Vol 8 (4) ◽  
pp. e60464 ◽  
Author(s):  
Xuejuan Jiang ◽  
J. Esteban Castelao ◽  
David Vandenberg ◽  
Angel Carracedo ◽  
Carmen M. Redondo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Cancer Risk ◽  
Genetic Variations ◽  
Colorectal Cancer Risk ◽  
Cancer Family ◽  
Colon Cancer Family Registry

scholarly journals Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)

2018 ◽  
Vol 47 (2) ◽  
pp. 387-388i ◽  
Author(s):  
Mark A Jenkins ◽  
Aung Ko Win ◽  
Allyson S Templeton ◽  
Maggie S Angelakos ◽  
Daniel D Buchanan ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Cancer Family ◽  
Colon Cancer Family Registry
Sign in / Sign up

Export Citation Format

Share Document