Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting

被引:73
作者
Bellcross, Cecelia A. [1 ,2 ]
Bedrosian, Sara R. [1 ]
Daniels, Elvan [3 ]
Duquette, Debra [4 ]
Hampel, Heather [5 ]
Jasperson, Kory [6 ]
Joseph, Djenaba A. [7 ]
Kaye, Celia [8 ]
Lubin, Ira [9 ]
Meyer, Laurence J. [10 ]
Reyes, Michele [1 ]
Scheuner, Maren T. [11 ,12 ]
Schully, Sheri D. [13 ]
Senter, Leigha [5 ]
Stewart, Sherri L. [7 ]
St Pierre, Jeanette [1 ]
Westman, Judith [5 ]
Wise, Paul [14 ]
Yang, Vincent W. [15 ]
Khoury, Muin J. [1 ]
机构
[1] Ctr Dis Control & Prevent, Off Publ Hlth Genom, Atlanta, GA 30333 USA
[2] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA
[3] Morehouse Sch Med, Natl Ctr Primary Care, Atlanta, GA 30310 USA
[4] Michigan Dept Community Hlth, Lansing, MI USA
[5] Ohio State Univ, Dept Internal Med, Div Human Genet, Ctr Comprehens Canc, Columbus, OH 43210 USA
[6] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA
[7] Ctr Dis Control & Prevent, Div Canc Prevent & Control, Atlanta, GA USA
[8] Univ Colorado, Off Educ Dev & Res, Sch Med, Aurora, CO USA
[9] Ctr Dis Control & Prevent, Lab Res & Evaluat Branch, Atlanta, GA USA
[10] Salt Lake City Hlth Care Syst, Dept Vet Affairs, Salt Lake City, UT USA
[11] Greater Los Angeles Healthcare Syst, Dept Vet Affairs, Los Angeles, CA USA
[12] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90095 USA
[13] NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA
[14] Vanderbilt Univ, Dept Surg, Med Ctr, Nashville, TN 37240 USA
[15] Emory Univ, Sch Med, Div Digest Dis, Atlanta, GA USA
关键词
colorectal cancer; genetic screening; genetic testing; HNPCC; Lynch syndrome; CUMULATIVE LIFETIME INCIDENCE; GENETIC TESTING STRATEGIES; MISMATCH REPAIR PROTEINS; EGAPP WORKING GROUP; MICROSATELLITE INSTABILITY; ENDOMETRIAL CANCER; REDUCING MORBIDITY; MUTATION CARRIERS; PROVEN MUTATIONS; MLH1; PROMOTER;
D O I
10.1038/gim.0b013e31823375ea
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.
引用
收藏
页码:152 / 162
页数:11
相关论文
共 63 条
[1]   Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease [J].
Aaltonen, LA ;
Salovaara, R ;
Kristo, P ;
Canzian, F ;
Hemminki, A ;
Peltomäki, P ;
Chadwick, RB ;
Kääriäinen, H ;
Eskelinen, M ;
Järvinen, H ;
Mecklin, JP ;
de la Chapelle, A ;
Percesepe, A ;
Ahtola, H ;
Härkönen, N ;
Julkunen, R ;
Kangas, E ;
Ojala, S ;
Tulikoura, J ;
ValKamo, E .
NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (21) :1481-1487
[2]  
Aarnio M, 1999, INT J CANCER, V81, P214, DOI 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO
[3]  
2-L
[4]  
AHRQ, 2007, HER NONP COL CANC DI
[5]  
[Anonymous], 2010, CLIN PRACT GUID ONC
[6]  
[Anonymous], GASTROENTEROLOGY
[7]  
[Anonymous], 2013, US CANC STAT 1999 20
[8]  
[Anonymous], GENET MED
[9]  
[Anonymous], EVALUATION GENOMIC A
[10]   Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers [J].
Baglietto, Laura ;
Lindor, Noralane M. ;
Dowty, James G. ;
White, Darren M. ;
Wagner, Anja ;
Garcia, Encarna B. Gomez ;
Vriends, Annette H. J. T. ;
Cartwright, Nicola R. ;
Barnetson, Rebecca A. ;
Farrington, Susan M. ;
Tenesa, Albert ;
Hampel, Heather ;
Buchanan, Daniel ;
Arnold, Sven ;
Young, Joanne ;
Walsh, Michael D. ;
Jass, Jeremy ;
Macrae, Finlay ;
Antill, Yoland ;
Winship, Ingrid M. ;
Giles, Graham G. ;
Goldblatt, Jack ;
Parry, Susan ;
Suthers, Graeme ;
Leggett, Barbara ;
Butz, Malinda ;
Aronson, Melyssa ;
Poynter, Jenny N. ;
Baron, John A. ;
Le Marchand, Loic ;
Haile, Robert ;
Gallinger, Steve ;
Hopper, John L. ;
Potter, John ;
de la Chapelle, Albert ;
Vasen, Hans F. ;
Dunlop, Malcolm G. ;
Thibodeau, Stephen N. ;
Jenkins, Mark A. .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2010, 102 (03) :193-201