Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline

被引:96
作者
Weissman, Scott M. [1 ]
Burt, Randall [2 ]
Church, James [3 ]
Erdman, Steve [4 ]
Hampel, Heather [5 ,11 ]
Holter, Spring [6 ]
Jasperson, Kory [2 ]
Kalady, Matt F. [3 ]
Haidle, Joy Larsen [7 ]
Lynch, Henry T. [8 ]
Palaniappan, Selvi [9 ]
Wise, Paul E. [10 ]
Senter, Leigha [5 ,11 ]
机构
[1] NorthShore Univ HealthSyst, Ctr Med Genet, Evanston, IL USA
[2] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA
[3] Cleveland Clin Fdn, Inst Digest Dis, Cleveland, OH 44195 USA
[4] Nationwide Childrens Hosp, Columbus, OH USA
[5] Ohio State Univ, Ctr Comprehens Canc, Arthur G James Canc Hosp, Columbus, OH 43210 USA
[6] Mt Sinai Hosp, Dis Clin Res Ctr, Zane Cohen Ctr Digest, Toronto, ON M5G 1X5, Canada
[7] N Mem Healthcare, Hubert H Humphrey Canc Ctr, Robbinsdale, MN USA
[8] Creighton Hereditary Canc Ctr, Dept Preventat Med, Omaha, NE USA
[9] Northside Hosp, Hereditary Canc Program, Atlanta, GA USA
[10] Vanderbilt Univ, Med Ctr, Vanderbilt Hereditary Colorectal Canc Registry, Nashville, TN USA
[11] Ohio State Univ, Ctr Comprehens Canc, Richard J Solove Res Inst, Columbus, OH 43210 USA
关键词
Lynch syndrome; Colorectal neoplasms; Microsatellite instability; Immunohistochemistry; Practice guideline; DNA mismatch repair; Genetic testing; Uterine neoplasms; MICROSATELLITE INSTABILITY; ENDOMETRIAL CANCER; COST-EFFECTIVENESS; COLON-CANCER; LATER AGE; IMMUNOHISTOCHEMISTRY; FAMILIES; HNPCC; PREDISPOSITION; STRATEGIES;
D O I
10.1007/s10897-011-9465-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.
引用
收藏
页码:484 / 493
页数:10
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