Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Torrezan, Giovana Tardin ^a   Da Silva, Felipe Cavalcanti Carneiro ^a   Santos, Érika Maria Monteiro ^a,b   Krepischi, Ana Cristina Victorino ^a,b   Achatz, Maria Isabel Waddington ^a,b   Junior, Samuel Aguiar ^a   Rossi, Benedito Mauro ^c   Carraro, Dirce Maria ^a,b  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b National Institute of Science and Technology in Oncogenomics (INCITO)   (Brazil)

^c BARRETOS CANCER HOSPITAL   (Brazil)

Author keywords

APC; Genotype phenotype; Mutation screening; MUTYH; Polyposis

Indexed keywords

APC PROTEIN; DNA; DNA GLYCOSYLASE MUTY;

ADENOMATOUS POLYP; ADULT; ALLELE; ARTICLE; ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; DESMOID TUMOR; DNA SEQUENCE; FAMILIAL ADENOMATOUS POLYPOSIS; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTYH ASSOCIATED POLYPOSIS; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS;

ADENOMA; ALLELES; BRAZIL; COLORECTAL NEOPLASMS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA GLYCOSYLASES; FEMALE; GENES, APC; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 84875859867     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-54     Document Type: Article

References (55)

1. Gastrointestinal Polyposis: Syndromes and Genetic Mechanisms. Gardner EJ, Burt RW, Freston JW, West J Med 1980 132 488 499 7405200
2. The gene for familial polyposis coli maps to the long arm of chromosome 5. Leppert M, Dobbs M, Scambler P, O'Connell P, Nakamura Y, Stauffer D, Woodward S, Burt R, Hughes J, Gardner E, Science 1987 238 1411 1413 10.1126/science. 3479843 3479843
3. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Knudsen AL, Bisgaard ML, Bülow S, Fam Cancer 2003 2 43 55 10.1023/A:1023286520725 14574166
4. Inherited variants of MYH associated with somatic G:C > T:A mutations in colorectal tumors. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP, Nat Genet 2002 30 227 232 10.1038/ng828 11818965
5. Identification of FAP locus genes from chromosome 5q21. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniea R, Matrkam A, Groffen J, Boguski MS, Altschul SF, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y, Science 1991 253 661 665 10.1126/science.1651562 1651562
6. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P, Science 1991 253 665 669 10.1126/science.1651563 1651563
7. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B, Am J Hum Genet 1998 62 1290 1301 10.1086/301883 9585611
8. A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Young J, Simms LA, Tarish J, Buttenshaw R, Knight N, Anderson GJ, Bell A, Leggett B, Hum Mutat 1998 11 450 455 10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P 9603437
9. Maternal mosaicism for a second mutational event-a novel deletion-in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC. Davidson S, Leshanski L, Rennert G, Eidelman S, Amikam D, Hum Mutat 2002 19 83 84 10.1002/humu.9006 11754114
10. MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. Venesio T, Balsamo A, Agostino VGD, Ranzani GN, Front Oncol 2012 2 83 1 9
11. Leiden Open Variation Database of the MUTYH Gene Human Mutation. Out AA, Tops CMJ, Nielsen ÃM, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ, Hum Mutat 2010 31 1205 1215 10.1002/humu.21343 20725929
12. Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP)-update 2012. Aretz S, Genuardi M, Hes FJ, Eur J Hum Genet 2012 8 1 4
13. MutYH (MYH) and colorectal cancer. Sampson JR, Jones S, Dolwani S, Cheadle JP, Biochem Soc Trans 2005 33 679 683 10.1042/BST0330679 16042573
14. Multiple Colorectal Adenomas, Classic Adenomatous Polyposis and Germ-Line Mutations in MYH. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP, N Eng J Med 2003 9 791 799
15. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão De Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C, Clin Genet 2009 76 242 255 10.1111/j.1399-0004. 2009.01241.x 19793053
16. MUTYH hotspot mutations in unselected colonoscopy patients. Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle J, Colorectal Dis 2012 14 238 244 10.1111/j.1463-1318.2012.02920.x
17. MUTYH-associated polyposis (MAP). Nielsen M, Morreau H, Vasen HFA, Hes FJ, Crit Rev Oncol Hematol 2011 79 1 1 16 10.1016/j.critrevonc.2010.05.011 20663686
18. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP, Lancet 2003 362 39 41 10.1016/S0140-6736(03)13805-6 12853198
19. Familial Adenomatous Polyposis: Data from the Hereditary Colorectal Cancer Registry (HCCR). Santos EMM, Ferreira FO, Aguiar S, Nakagawa WT, Lopes A, Medeiros A, Rossi BM, Applied Cancer Research 2008 28 1 17 23
20. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Newton CR, Graham A, Heptinstal LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF, Nucleic Acids Res 1989 17 2503 2516 10.1093/nar/17.7.2503 2785681
21. A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype. Torrezan GT, Silva FC D, Krepischi ACV, Dos Santos EM, Rossi BM, Carraro DM, BMC Med Genet 2012 13 55 22799487
22. Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature. Nieuwenhuis MH, Vasen HFA, Crit Rev Oncol Hematol 2007 61 153 161 10.1016/j.critrevonc.2006.07.004 17064931
23. Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report. Torrezan GT, Silva FC D, Krepischi ACV, Santos EM, Ferreira Fde O, Rossi BM, Carraro DM, BMC Med Genet 2011 12 128 10.1186/1471-2350-12-128 21962078
24. Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Mandl M, Paffenholz R, Friedl W, Caspari R, Sengteller M, Propping P, Hum Mol Genet 1994 3 1 181 184 10.1093/hmg/3.1.181 8162022
25. Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, Maeda Y, Iwama T, Mishima Y, Mori T, Koike M, Cancer Res 1994 54 11 3011 3020 8187091
26. Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Friedl W, Aretz S, Hered Cancer Clin Pract 2005 3 3 95 114 10.1186/1897-4287-3-3-95 20223039
27. Molecular Analysis of the APC and MYH Genes in Czech Families Affected by FAP or Multiple Adenomas: 13 Novel Mutations. Vandrovcová J, Štekrová J, Kebrdlová V, Kohoutová M, Hum Mutat 2004 23 397 404 15024741
28. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Miyoshi Y, Ando H, Nagase H, Nishisho I, Horii A, Miky Y, Mori T, Utsunomiya J, Baba S, Petersen G, Hamilton SR, Kinzler KW, Vogelstein B, Nakamura Y, Proc Natl Acad Sci 1992 89 4452 4456 10.1073/pnas.89.10.4452 1316610
29. The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. Eliason K, Hendrickson BC, Judkins T, Norton M, Leclair B, Lyon E, Ward B, Noll W, Scholl T, J Med Genet 2005 42 1 95 96 10.1136/jmg.2004.025973 15635083
30. Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. Olschwang S, Blanché H, de Moncuit C, Thomas G, Genet Test 2007 11 3 315 320 10.1089/gte.2007.9995 17949294
31. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Fleischmann C, Peto J, Cheadle J, Shah B, Sampson J, Houlston RS, Int J Cancer 2004 109 4 554 558 10.1002/ijc.20020 14991577
32. A kindred with MYH-associated polyposis and pilomatricomas. Baglioni S, Melean G, Gensini F, Santucci M, Scatizzi M, Papi L, Genuardi M, Am J Med Genet A 2005 134A 2 212 214 10.1002/ajmg.a.30585 15690400
33. First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. Rouleau E, Zattara H, Lefol C, Noguchi T, Briaux A, Buecher B, Bourdon V, Sobol H, Lidereau R, Olschwang S, Clin Genet 2011 80 301 303 10.1111/j.1399-0004.2011.01699.x 21815886
34. Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. Bunyan DJ, Shea-Simonds J, Reck C, Finnis D, Eccles DM, J Med Genet 1995 32 728 731 10.1136/jmg.32.9.728 8544194
35. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. Wallis YL, Morton DG, McKeown CM, Macdonald F, J Med Genet 1999 36 14 20 9950360
36. Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I, Am J Pathol 2002 160 2055 2061 10.1016/S0002-9440(10)61155-8 12057910
37. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? Gómez-fernández N, Castellví-bel S, Fernández-rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C, BMC Med Genet 2009 10 1 12 19133158
38. Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. Fostira F, Thodi G, Sandaltzopoulos R, Fountzilas G, Yannoukakos D, Mol Biol 2010 10 389
39. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. Rivera B, Gonzalez S, Sánchez-Tomé E, Blanco I, Mercadillo F, Letón R, Benítez J, Robledo M, Capellá G, Urioste M, Ann Oncol 2011 22 4 903 909 10.1093/annonc/mdq465 20924072
40. Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. Kanter-Smoler G, Fritzell K, Rohlin A, Engwall Y, Hallberg B, Bergman A, Meuller J, Grönberg H, Karlsson P, Björk J, Nordling M, BMC Med 2008 6 1 14 10.1186/1741-7015-6-1 18234075
41. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P, Int J Colorectal Dis 2011 26 7 841 846 10.1007/s00384-011-1172-1 21424714
42. Deep Intronic APC Mutations Explain a Substantial Proportion of Patients with Familial or Early-Onset. Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P, Aretz S, Hum Mutat 2012 33 1 6 10.1002/humu.21657
43. Genotype-phenotype correlation in colorectal polyposis. Newton K, Mallinson E, Bowen J, Lalloo F, Clancy T, Hill J, Evans DG, Clin Genet 2011 81 6 1 11 21943145
44. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Vasen HF, van der Luijt RB, Slors JF, Buskens E, de Ruiter P, Baeten CG, Schouten WR, Oostvogel HJ, Kuijpers JH, Tops CM, Meera KP, Lancet 1996 348 433 435 10.1016/S0140-6736(96)01340-2 8709782
45. APC genotype, polyp number, and surgical options in familial adenomatous polyposis. Wu JS, Paul P, McGannon E, Church JM, Ann Surg 1998 227 57 62 10.1097/00000658-199801000-00009 9445111
46. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Vasen HFA, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Gut 2008 57 704 713 10.1136/gut.2007.136127 18194984
47. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P, Gut 2001 48 515 521 10.1136/gut.48.4.515 11247896
48. Familial adenomatous polyposis. Half E, Bercovich D, Rozen P, Orphanet J Rare Dis 2009 4 22 1 23 19133130
49. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, Botma A, Nagengast FM, Kleibeuker JH, Mathus-Vliegen EM, Dekker E, Dees J, Wijnen J, Vasen HF, Clin Gastroenterol Hepatol 2008 6 2 215 219 10.1016/j.cgh.2007.11.011 18237870
50. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F, Gismondi V, Varesco L, Pierotti MA, Radice P, Int J Cancer 2001 95 2 102 107 10.1002/1097-0215(20010320)95:2<102::AID- IJC1018>3.0.CO;2-8 11241320
51. Desmoid tumours in familial adenomatous polyposis. Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV, Kerr MC, Hamilton SR, Gut 1994 35 377 381 10.1136/gut.35.3.377 8150351
52. Desmoid tumours complicating familial adenomatous polyposis. Clark SK, Neale KF, Landgrebe JC, Phillips RK, Br J Surg 1999 86 1185 1189 10.1046/j.1365-2168.1999.01222.x 10504375
53. DNA tests probe the genomic ancestry of Brazilians. Pena SDJ, Bastos-Rodrigues L, Pimenta JR, Bydlowski SP, Braz J Med Biol Res 2009 42 10 870 876 10.1590/S0100-879X2009005000026 19738982
54. Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Sturt NJ, Gallagher MC, Bassett P, Philp CR, Neale KF, Tomlinson IP, Silver AR, Phillips RK, Gut 2004 53 12 1832 1836 10.1136/gut.2004.042705 15542524
55. Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Crabtree MD, Tomlinson IP, Hodgson SV, Neale K, Phillips RK, Houlston RS, Gut 2002 51 3 420 423 10.1136/gut.51.3.420 12171967