Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

被引：28

作者：

Win, Aung Ko ^{[1
]}

Hopper, John L. ^{[1
]}

Buchanan, Daniel D. ^{[2
]}

Young, Joanne P. ^{[2
]}

Tenesa, Albert ^{[3
,4
]}

Dowty, James G. ^{[1
]}

Giles, Graham G. ^{[5
]}

Goldblatt, Jack ^{[6
,7
]}

Winship, Ingrid ^{[8
,9
]}

Boussioutas, Alex ^{[10
,11
,12
]}

Young, Graeme P. ^{[13
]}

Parry, Susan ^{[14
,15
]}

Baron, John A. ^{[16
]}

Duggan, David ^{[17
]}

Gallinger, Steven ^{[18
,19
]}

Newcomb, Polly A. ^{[20
]}

Haile, Robert W. ^{[21
]}

Le Marchand, Loic ^{[22
]}

Lindor, Noralane M. ^{[23
]}

Jenkins, Mark A. ^{[1
]}

机构：

[1] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Parkville, Vic 3052, Australia

[2] Queensland Inst Med Res, Canc & Populat Studies Grp, Bancroft Ctr, Herston, Qld 4006, Australia

[3] Univ Edinburgh, Roslin Inst, Edinburgh, Midlothian, Scotland

[4] Univ Edinburgh, Human Genet Unit, MRC, Inst Genet & Mol Med,Western Gen Hosp, Edinburgh EH8 9YL, Midlothian, Scotland

[5] Canc Council Victoria, Canc Epidemiol Ctr, Carlton, Vic, Australia

[6] Univ Western Australia, Genet Serv Western Australia, Perth, WA 6009, Australia

[7] Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA 6009, Australia

[8] Univ Melbourne, Dept Med, Parkville, Vic 3052, Australia

[9] Royal Melbourne Hosp, Parkville, Vic 3050, Australia

[10] Univ Melbourne, Dept Med, Royal Melbourne Hosp, Parkville, Vic 3052, Australia

[11] Peter MacCallum Canc Ctr, East Melbourne, Vic, Australia

[12] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3052, Australia

[13] Flinders Univ S Australia, Flinders Ctr Innovat Canc, Adelaide, SA 5001, Australia

[14] Auckland City Hosp, New Zealand Familial Gastrointestinal Canc Regist, Auckland, New Zealand

[15] Middlemore Hosp, Dept Gastroenterol, Auckland 6, New Zealand

[16] Univ N Carolina, Dept Med, Chapel Hill, NC USA

[17] Translat Genom Res Inst TGen, Genet Basis Human Dis Div, Phoenix, AZ USA

[18] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada

[19] Canc Care Ontario, Toronto, ON, Canada

[20] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Seattle, WA 98104 USA

[21] Univ So Calif, Dept Prevent Med, Los Angeles, CA 90089 USA

[22] Univ Hawaii, Ctr Canc, Honolulu, HI 96822 USA

[23] Mayo Clin Arizona, Dept Hlth Sci Res, Scottsdale, AZ USA

来源：

EUROPEAN JOURNAL OF CANCER | 2013年 / 49卷 / 07期

基金：

美国国家卫生研究院;

关键词：

Genetic variant; Colorectal cancer; Lynch syndrome; Mismatch repair; GENOME-WIDE ASSOCIATION; LYNCH-SYNDROME; COLON-CANCER; SUSCEPTIBILITY LOCI; GERMLINE MUTATIONS; FAMILY REGISTRY; EPIDEMIOLOGY; 11Q23.1; 8Q23.3; MLH1;

D O I：

10.1016/j.ejca.2013.01.029

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Genome-wide association studies have identified at least 15 independent common genetic variants associated with colorectal cancer (CRC) risk. The aim of this study was to investigate whether 11 of these variants are associated with CRC risk for carriers of germline mutations in DNA mismatch repair (MMR) genes. Methods: A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). We used a weighted Cox regression to estimate CRC risk for homozygous and heterozygous carriers of the risk allele compared with homozygous non-carriers as well as for an additive per allele model (on the log scale). Results: Over a total of 40,978 person-years observation, 426 (46%) carriers were diagnosed with CRC at a mean age of 44.3 years. For all carriers combined, we found no evidence of an association between CRC risk and the total number of risk alleles (hazard ratio [HR] per risk allele = 0.97, 95% confidence interval [CI] = 0.88-1.07, p = 0.52). Conclusions: We found no evidence that the SNPs associated with CRC in the general population are modifiers of the risk for MMR gene mutation carriers overall, and therefore any evidence of proven clinical utility in Lynch syndrome. (C) 2013 Elsevier Ltd. All rights reserved.

引用

页码：1578 / 1587

页数：10

共 50 条

[31] Ten Common Genetic Variants Associated with Colorectal Cancer Risk Are Not Associated with Survival after Diagnosis
Tenesa, Albert
Theodoratou, Evropi
Din, Farhat V. N.
Farrington, Susan M.
Cetnarskyj, Roseanne
Barnetson, Rebecca A.
Porteous, Mary E.
Campbell, Harry
Dunlop, Malcolm G.
CLINICAL CANCER RESEARCH, 2010, 16 (14) : 3754 - 3759
[32] Mismatch Repair (MMR) Gene Mutation Carriers Have Favorable Outcome in Colorectal and Endometrial Cancer: A Prospective Cohort Study
Yeh, Jiunn-Tyng
Peng, Hung-Pin
Hung, Fei-Hung
Hung, Chen-Fang
Hsieh, Ling-Ling
Yang, An-Suei
Wang, Yong Alison
CANCERS, 2024, 16 (13)
[33] Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?
Bharati, Rajani
Jenkins, Mark A.
Lindor, Noralane M.
Le Marchand, Loic
Gallinger, Steven
Haile, Robert W.
Newcomb, Polly A.
Hopper, John L.
Win, Aung Ko
GYNECOLOGIC ONCOLOGY, 2014, 133 (02) : 287 - 292
[34] Discovery of common and rare genetic risk variants for colorectal cancer
Jeroen R. Huyghe
Stephanie A. Bien
Tabitha A. Harrison
Hyun Min Kang
Sai Chen
Stephanie L. Schmit
David V. Conti
Conghui Qu
Jihyoun Jeon
Christopher K. Edlund
Peyton Greenside
Michael Wainberg
Fredrick R. Schumacher
Joshua D. Smith
David M. Levine
Sarah C. Nelson
Nasa A. Sinnott-Armstrong
Demetrius Albanes
M. Henar Alonso
Kristin Anderson
Coral Arnau-Collell
Volker Arndt
Christina Bamia
Barbara L. Banbury
John A. Baron
Sonja I. Berndt
Stéphane Bézieau
D. Timothy Bishop
Juergen Boehm
Heiner Boeing
Hermann Brenner
Stefanie Brezina
Stephan Buch
Daniel D. Buchanan
Andrea Burnett-Hartman
Katja Butterbach
Bette J. Caan
Peter T. Campbell
Christopher S. Carlson
Sergi Castellví-Bel
Andrew T. Chan
Jenny Chang-Claude
Stephen J. Chanock
Maria-Dolores Chirlaque
Sang Hee Cho
Charles M. Connolly
Amanda J. Cross
Katarina Cuk
Keith R. Curtis
Albert de la Chapelle
Nature Genetics, 2019, 51 : 76 - 87
[35] Discovery of common and rare genetic risk variants for colorectal cancer
Huyghe, Jeroen R.
Bien, Stephanie A.
Harrison, Tabitha A.
Kang, Hyun Min
Chen, Sai
Schmit, Stephanie L.
Conti, David V.
Qu, Conghui
Jeon, Jihyoun
Edlund, Christopher K.
Greenside, Peyton
Wainberg, Michael
Schumacher, Fredrick R.
Smith, Joshua D.
Levine, David M.
Nelson, Sarah C.
Sinnott-Armstrong, Nasa A.
Albanes, Demetrius
Alonso, M. Henar
Anderson, Kristin
Arnau-Collell, Coral
Arndt, Volker
Bamia, Christina
Banbury, Barbara L.
Baron, John A.
Berndt, Sonja I.
Bezieau, Stephane
Bishop, D. Timothy
Boehm, Juergen
Boeing, Heiner
Brenner, Hermann
Brezina, Stefanie
Buch, Stephan
Buchanan, Daniel D.
Burnett-Hartman, Andrea
Butterbach, Katja
Caan, Bette J.
Campbell, Peter T.
Carlson, Christopher S.
Castellvi-Bel, Sergi
Chan, Andrew T.
Chang-Claude, Jenny
Chanock, Stephen J.
Chirlaque, Maria-Dolores
Cho, Sang Hee
Connolly, Charles M.
Cross, Amanda J.
Cuk, Katarina
Curtis, Keith R.
de la Chapelle, Albert
NATURE GENETICS, 2019, 51 (01) : 76 - +
[36] Rare Variants in the DNA Repair Pathway and the Risk of Colorectal Cancer
Matejcic, Marco
Shaban, Hiba A.
Quintana, Melanie W.
Schumacher, Fredrick R.
Edlund, Christopher K.
Naghi, Leah
Pai, Rish K.
Haile, Robert W.
Levine, A. Joan
Buchanan, Daniel D.
Jenkins, Mark A.
Figueiredo, Jane C.
Rennert, Gad
Gruber, Stephen B.
Li, Li
Casey, Graham
Conti, David, V
Schmit, Stephanie L.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2021, 30 (05) : 895 - 903
[37] Identification of Mismatch Repair Gene Carriers in Patients With Colorectal Cancer: A Pooled Data Analysis
Moreira, Leticia
Lindor, Noralane M.
Balaguer, Francesc
Moreno, Victor
Andreu, Montserrat
Castells, Antoni
GASTROENTEROLOGY, 2012, 142 (05) : S512 - S512
[38] Modifiers of Expression in Mutations of Mismatch Repair Gene Carriers in Hereditary Nonpolyposis Colorectal Cancer
Chen, Jinyun
Zhu, Jing
Pande, Mala
Amos, Joshua
Frazier, Marsha L.
Wei, Chongjuan
CURRENT COLORECTAL CANCER REPORTS, 2006, 2 (04) : 179 - 184
[39] Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry
Mala Pande
Chongjuan Wei
Jinyun Chen
Christopher I. Amos
Patrick M. Lynch
Karen H. Lu
Laura A. Lucio
Stephanie G. Boyd-Rogers
Sarah A. Bannon
Maureen E. Mork
Marsha L. Frazier
Familial Cancer, 2012, 11 : 441 - 447
[40] Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry
Pande, Mala
Wei, Chongjuan
Chen, Jinyun
Amos, Christopher I.
Lynch, Patrick M.
Lu, Karen H.
Lucio, Laura A.
Boyd-Rogers, Stephanie G.
Bannon, Sarah A.
Mork, Maureen E.
Frazier, Marsha L.
FAMILIAL CANCER, 2012, 11 (03) : 441 - 447

← 1 2 3 4 5 →