Mutation spectrum in South American Lynch syndrome families

Hereditary Cancer in Clinical Practice

Volumn 11, Issue 1, 2013, Pages

  Dominguez Valentin, Mev ^a,b   Nilbert, Mef ^a,b   Wernhoff, Patrik ^c   López Köstner, Francisco ^d   Vaccaro, Carlos ^e   Sarroca, Carlos ^f   Palmero, Edenir I ^g   Giraldo, Alejandro ^h   Ashton Prolla, Patricia ⁱ   Alvarez, Karin ^d   Ferro, Alejandra ^e   Neffa, Florencia ^f   Caris, Junea ^g   Carraro, Dirce M ^j   Rossi, Benedito M ^k  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LUND UNIVERSITY   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d Molecular Laboratory   (Chile)

^e HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^f Fuerzas Armadas Hospital   (Uruguay)

^g Barretos Cancer Hospital   (Brazil)

^h UNIVERSIDAD DEL SINÚ   (Colombia)

ⁱ HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^j A C CAMARGO CANCER CENTER   (Brazil)

^k HOSPITAL SÍRIO LIBANÊS   (Brazil)

more..

Author keywords

Lynch syndrome; MLH1; MSH2; Mutation; South America

Indexed keywords

ADULT; ARGENTINA; ARTICLE; BRAZIL; CANCER REGISTRY; CHILE; COLOMBIA; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PRACTICE GUIDELINE; PUBLIC HEALTH SERVICE; SOUTH AMERICA; URUGUAY;

EID: 84890354878     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-11-18     Document Type: Article

References (30)

1. Plazzer JP, Sijmons RH, Woods MO, Peltomaki P, Thompson B, DenDunnen JT, Macrae F. The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome. Fam Cancer 2013, 12:175-180. 10.1007/s10689-013-9616-0, 23443670.
2. Giraldo A, Gomez A, Salguero G, Garcia H, Aristizabal F, Gutierrez O, Angel LA, Padron J, Martinez C, Martinez H, et al. MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)-description of four novel mutations. Fam Cancer 2005, 4:285-290. 10.1007/s10689-005-4523-7, 16341804.
3. Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, et al. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. Fam Cancer 2011, 10:641-647. 10.1007/s10689-011-9461-y, 21681552.
4. Sarroca C, Valle AD, Fresco R, Renkonen E, Peltomaki P, Lynch H. Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer. Clin Gen 2005, 68:80-87.
5. Rossi BM, Lopes A, Oliveira Ferreira F, Nakagawa WT, Napoli Ferreira CC, Casali Da Rocha JC, Simpson CC, Simpson AJ. hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer. Ann Surg Oncol 2002, 9:555-561.
6. Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, Lopez-Kostner F. Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome. Dis Colon Rectum 2010, 53:450-459. 10.1007/DCR.0b013e3181d0c114, 20305446.
7. Vaccaro CA, Bonadeo F, Roverano AV, Peltomaki P, Bala S, Renkonen E, Redal MA, Mocetti E, Mullen E, Ojea-Quintana G, et al. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register. Dis Colon Rectum 2007, 50:1604-1611. 10.1007/s10350-007-9037-y, 17846840.
8. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425. 10.1007/BF02053699, 2022152.
9. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456. 10.1016/S0016-5085(99)70510-X, 10348829.
10. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997, 89:1758-1762. 10.1093/jnci/89.23.1758, 9392616.
11. Alonso-Espinaco V, Giraldez MD, Trujillo C, van der Klift H, Munoz J, Balaguer F, Ocana T, Madrigal I, Jones AM, Echeverry MM, et al. Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med 2011, 13:155-160. 10.1097/GIM.0b013e318202e10b, 21233718.
12. denDunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12. 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N, 10612815.
13. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249. 10.1038/nmeth0410-248, 2855889, 20354512.
14. Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 2008, 29:852-860. 10.1002/humu.20735, 18383312.
15. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081. 10.1038/nprot.2009.86, 19561590.
16. Ferrer-Costa C, Orozco M, de la Cruz X. Sequence-based prediction of pathological mutations. Proteins 2004, 57:811-819. 10.1002/prot.20252, 15390262.
17. Ali H, Olatubosun A, Vihinen M. Classification of mismatch repair gene missense variants with PON-MMR. Hum Mutat 2012, 33:642-650. 10.1002/humu.22038, 22290698.
18. Li D, Hu F, Wang F, Cui B, Dong X, Zhang W, Lin C, Li X, Wang D, Zhao Y. Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. PloS One 2013, 8:e51240. 10.1371/journal.pone.0051240, 3602519, 23526924.
19. Dominguez MV, Bastos EP, Santos EM, Oliveira LP, Ferreira FO, Carraro DM, Rossi BM. Two new MLH1 germline mutations in Brazilian Lynch syndrome families. Int J Colorectal Dis 2008, 23:1263-1264. 10.1007/s00384-008-0515-z, 18594839.
20. da Silva FC, de Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S, Valentin MD, Rossi BM, de Oliveira Ferreira F. Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer 2010, 9:563-570. 10.1007/s10689-010-9373-2, 20697958.
21. Monteiro Santos EM, Valentin MD, Carneiro F, de Oliveira LP, de Oliveira FF, Junior SA, Nakagawa WT, Gomy I, de FariaFerraz VE, da Silva Junior WA, et al. Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. BMC Cancer 2012, 12:64. 10.1186/1471-2407-12-64, 3305354, 22321913.
22. Valentin MD, Da Silva FC, Santos EM, Da Silva SD, De Oliveira FF, Aguiar Junior S, Gomy I, Vaccaro C, Redal MA, Della Valle A, et al. Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome. Anticancer Res 2012, 32:4347-4351.
23. Peltomaki P, Vasen HF, The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 1997, 113:1146-1158. 10.1053/gast.1997.v113.pm9322509, 9322509, The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
24. Apessos A, Mihalatos M, Danielidis I, Kallimanis G, Agnantis NJ, Triantafillidis JK, Fountzilas G, Kosmidis PA, Razis E, Georgoulias VA, Nasioulas G. hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. Br J Cancer 2005, 92:396-404. 2361846, 15655560.
25. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006, 314:268-274. 10.1126/science.1133427, 16959974.
26. Nilbert M, Wikman FP, Hansen TV, Krarup HB, Orntoft TF, Nielsen FC, Sunde L, Gerdes AM, Cruger D, Timshel S, et al. Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer 2009, 8:75-83. 10.1007/s10689-008-9199-3, 18566915.
27. Isidro G, Veiga I, Matos P, Almeida S, Bizarro S, Marshall B, Baptista M, Leite J, Regateiro F, Soares J, et al. Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. Hum Mutat 2000, 15:116.
28. Borras E, Pineda M, Blanco I, Jewett EM, Wang F, Teule A, Caldes T, Urioste M, Martinez-Bouzas C, Brunet J, et al. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res 2010, 70:7379-7391. 10.1158/0008-5472.CAN-10-0570, 20858721.
29. Menendez M, Castellvi-Bel S, Pineda M, de Cid R, Munoz J, Gonzalez S, Teule A, Balaguer F, Ramon y Cajal T, Rene JM, et al. Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome. Clin Gen 2010, 78:186-190.
30. Medina-Arana V, Barrios Y, Fernandez-Peralta A, Herrera M, Chinea N, Lorenzo N, Jimenez A, Martin-Lopez JV, Gonzalez-Hermoso F, Salido E, Gonzalez-Aguilera JJ. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Cancer Lett 2006, 244:268-273. 10.1016/j.canlet.2005.12.033, 16500024.