Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

Familial Cancer

Volumn 8, Issue 4, 2009, Pages 483-487

  Backes, Floor J ^a   Hampel, Heather ^a   Backes, Katherine A ^a   Vaccarello, Luis ^b   Lewandowski, George ^b   Bell, Jeffrey A ^c   Reid, Gary C ^c   Copeland, Larry J ^a   Fowler, Jeffrey M ^a   Cohn, David E ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b MOUNT CARMEL HEALTH SYSTEM   (United States)

^c RIVERSIDE METHODIST HOSPITAL   (United States)

Author keywords

Endometrial cancer; Hereditary nonpolyposis colon cancer; Lynch syndrome; Mismatch repair gene mutations; Prediction models

Indexed keywords

ACCURACY; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COLORECTAL CANCER; COMORBIDITY; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HIGH RISK PATIENT; HUMAN; MISMATCH REPAIR; MISMATCH REPAIR GENE; MLH1 GNE; MSH2 GENE; MSH6 GENE; PREDICTION; PRIORITY JOURNAL; PROBABILITY; SENSITIVITY ANALYSIS; STUDENT T TEST;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FEMALE; HUMANS; MIDDLE AGED; MODELS, STATISTICAL; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROBABILITY; RISK FACTORS;

EID: 70449527475     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9273-5     Document Type: Article

References (23)

1. HT Lynch A De La Chapelle 1999 Genetic susceptibility for non-polyposis colorectal cancer J Med Genet 36 801 818 1:STN:280:DC%2BD3c%2FhtlSnuw%3D%3D 10544223
2. H Hampel WL Frankel E Martin, et al. 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 1851 1860 10.1056/NEJMoa043146 1:CAS:528:DC%2BD2MXjvVeisL0%3D 15872200 (Pubitemid 40627811)
3. H Hampel W Frankel J Panescu, et al. 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients Cancer Res 66 15 7810 7817 10.1158/0008-5472.CAN-06-1114 1:CAS:528: DC%2BD28XnsFyqs70%3D 16885385 (Pubitemid 44289242)
4. H Hampel JA Stephens E Pukkala, et al. 2005 Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset Gastroenterology 129 2 415 421 16083698 (Pubitemid 41096629)
5. M Aarnio R Sankila E Pukkala, et al. 1999 Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 2 214 218 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L 1:STN:280:DyaK1M3gt1Kjtg%3D%3D 10188721
6. HF Vasen P Watson JP Mecklin HT Lynch 1999 New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC Gastroenterology 116 1453 1456 10.1016/S0016-5085(99)70510-X 1:STN:280:DyaK1M3nvVamuw%3D%3D 10348829 (Pubitemid 29258894)
7. S Syngal EA Fox C Eng RD Kolodner JE Garber 2000 Sensitivity and specificity of clinical criteria for non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 J Med Genet 37 641 645 10.1136/jmg.37.9.641 1:CAS:528:DC%2BD3cXnt12rt7o%3D 10978352
8. D Ramsoekh A Wagner ME van Leerdam, et al. 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting Gut 57 11 1539 1544 10.1136/gut.2008.156695 1:CAS:528:DC%2BD1cXhtl2gtr7F 18625694
9. A Umar CR Boland JP Terdiman, et al. 2004 Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 261 268 1:CAS:528:DC%2BD2cXhsV2qtLk%3D 14970275 (Pubitemid 38256271)
10. V Pinol A Castells M Andreu S Castellvi-Bel C Alenda X Llor 2005 Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 16 1986 1994 10.1001/jama.293.16.1986 1:CAS:528:DC%2BD2MXjsleitrg%3D 15855432 (Pubitemid 40570892)
11. J Balmana DH Stockwell E Steyerberg, et al. 2006 Prediction of MLH1 and MSH2 mutations in Lynch syndrome JAMA 296 1469 1478 10.1001/jama.296.12.1469 1:CAS:528:DC%2BD28XhtVWktbfJ 17003395 (Pubitemid 44465511)
12. S Chen W Wang S Lee, et al. 2006 Prediction of germline mutations and cancer risk in the Lynch syndrome JAMA 296 1479 1487 10.1001/jama.296.12.1479 1:CAS:528:DC%2BD28XhtVWmsr3O 17003396 (Pubitemid 44465512)
13. RA Barnetson A Tenesa SM Farrington, et al. 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer N Engl J Med 354 2751 2763 10.1056/NEJMoa053493 1:CAS:528:DC%2BD28XmsVKrur8%3D 16807412 (Pubitemid 43974193)
14. KM Schmeler HT Lynch LM Chen, et al. 2006 Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome N Engl J Med 354 261 269 10.1056/NEJMoa052627 1:CAS:528:DC%2BD28Xls1GqtQ%3D%3D 16421367 (Pubitemid 43113031)
15. KH Lu M Dinh W Kohlmann, et al. 2005 Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome Obstet Gynecol 105 3 569 574 15738026
16. J Wijnen W de Leeuw H Vasen H van der Klift P Møller 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations Nat Genet 23 142 144 10.1038/13773 1:CAS:528:DyaK1MXmtlOhtLg%3D 10508506 (Pubitemid 29455383)
17. LR Lipton V Johnson C Cummings, et al. 2003 Refining the Amsterdam criteria and Bethesda guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic J Clin Oncol 21 23 4364 4370 10.1200/JCO.2003.04.094 (Pubitemid 46621813)
18. LA Devlin CA Graham JH Price PJ Morrison 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts Ulster Med J 77 1 25 30 18269114
19. A Wagner Y Hendriks EF Meijers-Heijboer, et al. 2001 Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree J Med Genet 38 5 318 322 10.1136/jmg.38.5.318 1:CAS:528:DC%2BD3MXkt1Cnur0%3D 11333868
20. YM Hendriks A Wagner H Morreau, et al. 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutation Gastroenterology 64 4721 4727
21. J Geary P Sasieni R Houlston, et al. 2008 Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC) Fam Cancer 7 2 163 172 10.1007/s10689-007-9164-6 1:CAS:528:DC%2BD1cXnt1Cisrg%3D 17939062 (Pubitemid 351871910)
22. J Plaschke C Engel S Krüger E Holinski-Feder C Pagenstecher E Mangold 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium J Clin Oncol 22 4486 4494 10.1200/JCO.2004.02.033 1:CAS:528:DC%2BD2cXhtFWqt7%2FM 15483016 (Pubitemid 41185114)
23. RD Kolodner JD Tytell JL Schmeits, et al. 1999 Germ-line MSH6 mutations in colorectal cancer families Cancer Res 59 5068 5074 1:CAS:528: DyaK1MXmvFelsr4%3D 10537275