Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: The importance of pathology review and pedigree analysis

Familial Cancer

Volumn 8, Issue 4, 2009, Pages 313-323

  Walsh, Michael D ^a,b   Buchanan, Daniel D ^a,b   Walters, Rhiannon ^a   Roberts, Aedan ^a   Arnold, Sven ^a   McKeone, Diane ^a   Clendenning, Mark ^a   Ruszkiewicz, Andrew R ^c   Jenkins, Mark A ^d   Hopper, John L ^d   Goldblatt, Jack ^e,f   George, Jillian ^e   Suthers, Graeme K ^g,h   Phillips, Kerry ^g   Young, Graeme P ⁱ   MacRae, Finlay ^j   Drini, Musa ^j   Woods, Michael O ^k   Parry, Susan ^l   Jass, Jeremy R ^m   Young, Joanne P ^a,b   more..

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c INSTITUTE OF MEDICAL AND VETERINARY SCIENCE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Genetic Services of Western Australia   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g South Australian Clinical Genetics Service   (Australia)

^h UNIVERSITY OF ADELAIDE   (Australia)

ⁱ FLINDERS UNIVERSITY   (Australia)

^j ROYAL MELBOURNE HOSPITAL   (Australia)

^k MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^l MIDDLEMORE HOSPITAL   (New Zealand)

^m ST MARK S HOSPITAL   (United Kingdom)

more..

Author keywords

Advanced serrated polyps; BRAF mutation; Lynch syndrome

Indexed keywords

B RAF KINASE; PROTEIN MLH1; PROTEIN MSH2;

ADULT; ADVANCED CANCER; ADVANCED SERRATED POLYP; AGED; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLON POLYP; COLORECTAL CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENETIC RISK; GENETIC SCREENING; GERM LINE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RECTUM POLYP; SOMATIC MUTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOMA; ADULT; AGED; COLONIC POLYPS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 70449530780     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9238-8     Document Type: Article

References (43)

1. L Aaltonen L Johns H Jarvinen JP Mecklin R Houlston 2007 Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors Clin Cancer Res 13 1 356 361 10.1158/1078-0432.CCR-06-1256 10.1158/1078-0432.CCR-06-1256 1:CAS:528:DC%2BD2sXotlak 17200375 (Pubitemid 46121890)
2. Woods MO, Hyde AJ, Curtis FK, Stuckless S, Green JS, Pollett AF et al (2005) High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 11(19 Pt 1):6853-6861. doi: 10.1158/1078-0432.CCR-05-0726 (Pubitemid 41428740)
3. MF Kane M Loda GM Gaida J Lipman R Mishra H Goldman, et al. 1997 Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines Cancer Res 57 5 808 811 1:CAS:528:DyaK2sXhs1Kjtbs%3D 9041175
4. N Rahner N Friedrichs V Steinke S Aretz W Friedl R Buettner, et al. 2008 Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome J Pathol 214 1 10 16 10.1002/path.2263 10.1002/path.2263 1:CAS:528:DC%2BD1cXhtlynu7o%3D 17973250
5. SA Kuismanen MT Holmberg R Salovaara A De La Chapelle P Peltomaki 2000 Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers Am J Pathol 156 5 1773 1779 1:CAS:528:DC%2BD3cXjslKks78%3D 10793088
6. J Young LA Simms KG Biden C Wynter V Whitehall R Karamatic, et al. 2001 Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis Am J Pathol 159 6 2107 2116 1:CAS:528:DC%2BD38Xhslaqsw%3D%3D 11733361
7. NS Goldstein P Bhanot E Odish S Hunter 2003 Hyperplastic-like colon polyps that preceded microsatellite-unstable adenocarcinomas Am J Clin Pathol 119 6 778 796 10.1309/DRFQ0WFUF1G13CTK 10.1309/DRFQ0WFUF1G13CTK 12817424
8. T Kambara LA Simms VL Whitehall KJ Spring CV Wynter MD Walsh, et al. 2004 BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum Gut 53 8 1137 1144 10.1136/gut.2003.037671 10.1136/gut.2003.037671 1:CAS:528:DC%2BD2cXmvVehtLc%3D 15247181 (Pubitemid 38961968)
9. A McGivern CVA Wynter VLJ Whitehall T Kambara KJ Spring MD Walsh 2004 Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer Fam Cancer 3 2 101 107 10.1023/B:FAME.0000039861.30651.c8 1:CAS:528:DC%2BD2cXntFCntbg%3D 15340260 (Pubitemid 40645891)
10. MB Loughrey PM Waring A Tan M Trivett S Kovalenko V Beshay, et al. 2007 Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer Fam Cancer 6 3 301 310 10.1007/s10689-007-9124-1 10.1007/s10689-007-9124-1 1:STN:280: DC%2BD2svjsVCnsQ%3D%3D 17453358 (Pubitemid 47175009)
11. JR Jass 2005 Serrated adenoma of the colorectum and the DNA-methylator phenotype Nat Clin Pract 2 8 398 405 1:CAS:528:DC%2BD2MXps1CksLo%3D
12. MJ O'Brien S Yang C Mack H Xu CS Huang E Mulcahy, et al. 2006 Comparison of microsatellite instability, CpG island methylation phenotype, BRAF and KRAS status in serrated polyps and traditional adenomas indicates separate pathways to distinct colorectal carcinoma end points Am J Surg Pathol 30 12 1491 1501 10.1097/01.pas.0000213313.36306.85 10.1097/01.pas.0000213313.36306.85 17122504 (Pubitemid 44808785)
13. J Young MA Barker LA Simms MD Walsh KG Biden D Buchanan, et al. 2005 Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer Clin Gastroenterol Hepatol 3 3 254 263 10.1016/S1542-3565(04)00673-1 10.1016/S1542-3565(04)00673-1 1:CAS:528: DC%2BD2MXjtVyntbk%3D 15765445 (Pubitemid 40568731)
14. K Lagerstedt Robinson T Liu J Vandrovcova B Halvarsson M Clendenning T Frebourg, et al. 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics J Natl Cancer Inst 99 4 291 299 10.1093/jnci/djk051 10.1093/jnci/djk051 17312306 (Pubitemid 47073492)
15. J Vandrovcova K Lagerstedt-Robinsson L Pahlman A Lindblom 2006 Somatic BRAF-V600E mutations in familial colorectal cancer Cancer Epidemiol Biomarkers Prev 15 11 2270 2273 10.1158/1055-9965.EPI-06-0359 10.1158/1055-9965.EPI-06-0359 1:CAS:528:DC%2BD28Xht1aisrfK 17119056 (Pubitemid 44877055)
16. PA Newcomb J Baron M Cotterchio S Gallinger J Grove R Haile, et al. 2007 Colon cancer family registry: an international resource for studies of the genetic epidemiology of colon cancer Cancer Epidemiol Biomarkers Prev 16 11 2331 2343 10.1158/1055-9965.EPI-07-0648 10.1158/1055-9965.EPI-07-0648 17982118 (Pubitemid 351196365)
17. CR Boland SN Thibodeau SR Hamilton D Sidransky JR Eshleman RW Burt, et al. 1998 A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer Cancer Res 58 22 5248 5257 1:CAS:528:DyaK1cXnsFSmtbk%3D 9823339
18. MD Walsh MC Cummings DD Buchanan WM Dambacher S Arnold D McKeone, et al. 2008 Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients Clin Cancer Res 14 6 1692 1700 10.1158/1078-0432.CCR-07-1849 10.1158/1078-0432.CCR-07-1849 1:CAS:528:DC%2BD1cXjtlejtLw%3D 18310315
19. MA Jenkins S Hayashi AM O'Shea LJ Burgart TC Smyrk D Shimizu, et al. 2007 Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study Gastroenterology 133 1 48 56 10.1053/j.gastro.2007.04.044 10.1053/j.gastro.2007.04.044 1:CAS:528:DC%2BD2sXptFKit7s%3D 17631130 (Pubitemid 47039240)
20. BA Leggett B Devereaux K Biden J Searle J Young J Jass 2001 Hyperplastic polyposis: association with colorectal cancer Am J Surg Pathol 25 2 177 184 10.1097/00000478-200102000-00005 10.1097/00000478-200102000-00005 1:STN:280:DC%2BD3M7is1OrsA%3D%3D 11176066 (Pubitemid 32167499)
21. A Yeoman J Young J Arnold J Jass S Parry 2007 Hyperplastic polyposis in the New Zealand population: a condition associated with increased colorectal cancer risk and European ancestory NZMJ 120 31 39
22. M Takahashi H Shimodaira C Andreutti-Zaugg R Iggo R Kolodner C Ishioka 2007 Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays Cancer Res 67 10 4595 4604 10.1158/0008-5472.CAN-06-3509 10.1158/0008-5472.CAN-06-3509 1:CAS:528:DC%2BD2sXltl2hu7s%3D 17510385 (Pubitemid 46910164)
23. J Trojan S Zeuzem A Randolph C Hemmerle A Brieger J Raedle, et al. 2002 Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system Gastroenterology 122 1 211 219 10.1053/gast.2002.30296 10.1053/gast.2002.30296 1:CAS:528:DC%2BD38Xmt1Crsg%3D%3D 11781295
24. CV Wynter MD Walsh T Higuchi BA Leggett J Young JR Jass 2004 Methylation patterns define two types of hyperplastic polyp associated with colorectal cancer Gut 53 4 573 580 10.1136/gut.2003.030841 10.1136/gut.2003.030841 1:CAS:528:DC%2BD2cXjsVWgu70%3D 15016754 (Pubitemid 38372984)
25. Skoglund J, Djureinovic T, Zhou XL, Vandrovcova J, Renkonen E, Iselius L et al (2006) Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1. J Med Genet 43(2):e7. doi: 10.1136/jmg.2005.033928
26. GL Wiesner D Daley S Lewis C Ticknor P Platzer J Lutterbaugh 2003 A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2 Proc Natl Acad Sci USA 100 22 12961 12965 10.1073/pnas.2132286100 10.1073/pnas.2132286100 1:CAS:528:DC%2BD3sXoslKmsro%3D 14566058 (Pubitemid 37340008)
27. ZE Kemp LG Carvajal-Carmona E Barclay M Gorman L Martin W Wood 2006 Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom Cancer Res 66 10 5003 5006 10.1158/0008-5472.CAN-05-4074 10.1158/0008-5472.CAN-05-4074 1:CAS:528:DC%2BD28XksF2ju74%3D 16707420 (Pubitemid 43844919)
28. KW Jasperson KR Blazer K Lowstuter JN Weitzel 2008 Working through a diagnostic challenge: colonic polyposis, Amsterdam criteria, and a mismatch repair mutation Fam Cancer 7 4 281 285 10.1007/s10689-007-9179-z 18176851
29. M van Puijenbroek M Nielsen TH Reinards MM Weiss A Wagner YM Hendriks, et al. 2007 The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family Fam Cancer 6 1 43 51 10.1007/s10689-006-9103-y 10.1007/s10689-006-9103-y 1:CAS:528:DC%2BD2sXhslWjsbg%3D 17039270 (Pubitemid 46295297)
30. KS Boparai E Dekker S Van Eeden MM Polak JF Bartelsman EM Mathus-Vliegen, et al. 2008 Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis Gastroenterology 135 6 2014 2018 10.1053/j.gastro.2008.09.020 10.1053/j.gastro.2008.09.020 1:CAS:528: DC%2BD1MXht1ertrg%3D 19013464
31. N Al-Tassan NH Chmiel J Maynard N Fleming AL Livingston GT Williams, et al. 2002 Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors Nat Genet 30 2 227 232 10.1038/ng828 10.1038/ng828 1:CAS:528:DC%2BD38XhtFWltb8%3D 11818965 (Pubitemid 34887721)
32. J Young JR Jass 2006 The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literature Cancer Epidemiol Biomarkers Prev 15 10 1778 1784 10.1158/1055-9965.EPI-06-0164 10.1158/1055-9965.EPI-06-0164 1:CAS:528:DC%2BD28XhtVGktbvE 17035382 (Pubitemid 44664248)
33. WS Samowitz C Sweeney J Herrick H Albertsen TR Levin MA Murtaugh, et al. 2005 Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers Cancer Res 65 14 6063 6069 10.1158/0008-5472.CAN-05-0404 10.1158/0008-5472.CAN-05-0404 1:CAS:528: DC%2BD2MXmt1ehtLY%3D 16024606 (Pubitemid 40994390)
34. DR English JP Young JA Simpson MA Jenkins MC Southey MD Walsh, et al. 2008 Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG Island Methylator Phenotype Cancer Epidemiol Biomarkers Prev 17 1774 1780 10.1158/1055-9965.EPI-08-0091 10.1158/1055-9965.EPI-08-0091 1:CAS:528:DC%2BD1cXosFGhtr0%3D 18628431
35. JE East BP Saunders Jass Jr 2008 Sporadic and syndromic hyperplastic polyps and serrated adenomas of the colon: classification, molecular genetics, natural history, and clinical management Gastroenterol Clin North Am 37 1 25 46 10.1016/j.gtc.2007.12.014 10.1016/j.gtc.2007.12.014 18313538 (Pubitemid 351289032)
36. FE Rijcken T van der Sluis H Hollema JH Kleibeuker 2003 Hyperplastic polyps in hereditary nonpolyposis colorectal cancer Am J Gastroenterol 98 10 2306 2311 10.1111/j.1572-0241.2003.07629.x 10.1111/j.1572-0241.2003.07629.x 14572584 (Pubitemid 37305375)
37. H Iino L Simms J Young J Arnold IM Winship SI Webb, et al. 2000 DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer Gut 47 1 37 42 10.1136/gut.47.1.37 10.1136/gut.47.1.37 1:CAS:528:DC%2BD3cXlsVGjtrg%3D 10861262 (Pubitemid 30430409)
38. G Deng I Bell S Crawley J Gum J Terdiman B Allen, et al. 2004 BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1 but not in hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 1 191 195 10.1158/1078-0432.CCR-1118-3 10.1158/1078-0432.CCR-1118-3 1:CAS:528:DC%2BD2cXkvF2msA%3D%3D 14734469 (Pubitemid 38114179)
39. K Koinuma K Shitoh Y Miyakura T Furukawa Y Yamashita J Ota, et al. 2004 Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas Int J Cancer 108 2 237 242 10.1002/ijc.11523 10.1002/ijc.11523 1:CAS:528:DC%2BD3sXhtVWgu73N 14639609 (Pubitemid 37541777)
40. L Wang JM Cunningham JL Winters JC Guenther AJ French LA Boardman, et al. 2003 BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair Cancer Res 63 17 5209 5212 1:CAS:528:DC%2BD3sXntlekt7c%3D 14500346
41. N Lubomierski G Plotz M Wormek K Engels S Kriener J Trojan, et al. 2005 BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors Cancer 104 5 952 961 10.1002/cncr.21266 10.1002/cncr.21266 1:CAS:528:DC%2BD2MXhtVWqsLbP 16015629 (Pubitemid 41170222)
42. JR Jass 2004 HNPCC and sporadic MSI-H colorectal cancer: a review of the morphological similarities and differences Fam Cancer 3 2 93 100 10.1023/B:FAME.0000039849.86008.b7 10.1023/B:FAME.0000039849.86008.b7 1:CAS:528:DC%2BD2cXntFCntbk%3D 15340259 (Pubitemid 40645890)
43. SH Andersen E Lykke MB Folker I Bernstein S Holck 2007 Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families Fam Cancer 7 2 157 162 10.1007/s10689-007- 9163-7 17929199