Performance of PREMM 1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases

Genetics in Medicine

Volumn 14, Issue 7, 2012, Pages 670-680

  Mercado, Rowena C ^a   Hampel, Heather ^b   Kastrinos, Fay ^c   Steyerberg, Ewout ^d   Balmana, Judith ^e   Stoffel, Elena ^a,f,g   Cohn, David E ^b   Backes, Floor J ^b   Hopper, John L ^h   Jenkins, Mark A ⁱ   Lindor, Noralane M ^j   Casey, Graham ^k   Haile, Robert ^k   Madhavan, Subha ^l   De La Chapelle, Albert ^b   Syngal, Sapna ^a,f,g  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c NewYork Presbyterian Hospital   (United States)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ CANCER EPIDEMIOLOGY CENTRE   (Australia)

^j MAYO CLINIC   (United States)

^k UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^l GEORGETOWN UNIVERSITY   (United States)

more..

Author keywords

endometrial cancer; genetic screening; genetic testing; Lynch syndrome; prediction models

Indexed keywords

MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MHS6; PROTEIN MLH1; PROTEIN MSH2; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; ENDOMETRIUM CANCER; FEMALE; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MODEL; PREDICTIVE VALUE; RISK ASSESSMENT; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY;

ADULT; AGED; AREA UNDER CURVE; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC TESTING; HUMANS; MIDDLE AGED; MODELS, STATISTICAL; MUTATION; SENSITIVITY AND SPECIFICITY;

EID: 84863636958     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.18     Document Type: Article

References (31)

1. Walsh MD, Cummings MC, Buchanan DD, et al. Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients. Clin Cancer Res 2008;14: 1692-1700. (Pubitemid 351469453)
2. Lynch HT, Boland CR, Gong G, et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet 2006;14:390-402.
3. Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE. Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients. Obstet Gynecol 2009;114:530-536.
4. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110:1020-1027. (Pubitemid 26113739)
5. Lu KH, Schorge JO, Rodabaugh KJ, et al. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol 2007;25:5158-5164. (Pubitemid 350232246)
6. Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006;66:7810-7817. (Pubitemid 44289242)
7. Meyer LA, Broaddus RR, Lu KH. Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Control 2009;16:14-22.
8. Resnick KE, Hampel H, Fishel R, Cohn DE. Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol 2009;114:128-134.
9. Balma J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-1478. (Pubitemid 44465511)
10. Kastrinos F, Steyerberg EW, Mercado R, et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011;140:73-81.
11. Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-2763. (Pubitemid 43974193)
12. Chen S, Wang W, Lee S, Nafa K, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-1487. (Pubitemid 44465512)
13. Balaguer F, Balma J, CastellvBel S, et al. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2008;134:39-46.
14. Balma J, Balaguer F, CastellvBel S, et al. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J Med Genet 2008;45:557-563.
15. Green RC, Parfrey PS, Woods MO, Younghusband HB. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst 2009;101:331-340.
16. Monzon JG, Cremin C, Armstrong L, et al. Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer. Int J Cancer 2010;126:930-939.
17. Pouchet CJ, Wong N, Chong G, et al. A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers. Ann Oncol 2009;20:681-688.
18. Ramsoekh D, van Leerdam ME, Wagner A, Kuipers EJ, Steyerberg EW. Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting. J Med Genet 2009;46:745-751.
19. Newcomb PA, Baron J, Cotterchio M, et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007;16: 2331-2343. (Pubitemid 351196365)
20. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-1048. (Pubitemid 34141849)
21. Poynter JN, Siegmund KD, Weisenberger DJ, et al. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev 2008;17:3208-3215.
22. Chen S, Wang W, Broman KW, Katki HA, Parmigiani G. BayesMendel: an R environment for Mendelian risk prediction. Stat Appl Genet Mol Biol 2004;3:Article21.
23. BayesMendel Lab. The BayesMendel R package. http://www.cancerbiostats. onc.jhmi.edu/BayesMendel/. Accessed 26 September 2011.
24. Backes FJ, Hampel H, Backes KA, et al. Are prediction models for Lynch syndrome valid for probands with endometrial cancer? Fam Cancer 2009;8:483-487.
25. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004;292:1480-1489. (Pubitemid 39258342)
26. Douglas FS, O'Dair LC, Robinson M, Evans DG, Lynch SA. The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet 1999;36:309-312. (Pubitemid 29161064)
27. Masuda K, Banno K, Yanokura M, et al. Carcinoma of the lower uterine segment (LUS): clinicopathological characteristics and association with Lynch syndrome. Curr Genomics 2011;12:25-29.
28. Garg K, Soslow RA. Lynch syndrome (hereditary non-polyposis colorectal cancer) and endometrial carcinoma. J Clin Pathol 2009;62:679-684.
29. Westin SN, Lacour RA, Urbauer DL, et al. Carcinoma of the lower uterine segment: a newly described association with Lynch syndrome. J Clin Oncol 2008;26:5965-5971.
30. Shih KK, Garg K, Levine DA, et al. Clinicopathologic significance of DNA mismatch repair protein defects and endometrial cancer in women 40years of age and younger. Gynecol Oncol 2011;123:88-94.
31. Kwon JS, Scott JL, Gilks CB, Daniels MS, Sun CC, Lu KH. Testing women with endometrial cancer to detect Lynch syndrome. J Clin Oncol 2011;29:2247-2252.