Mutation spectrum in South American Lynch syndrome families

被引：27

作者：

Dominguez-Valentin, Mev ^{[1
,2
]}

Nilbert, Mef ^{[2
]}

Wernhoff, Patrik ^{[3
]}

Lopez-Koestner, Francisco ^{[4
]}

Vaccaro, Carlos ^{[5
]}

Sarroca, Carlos ^{[6
]}

Palmero, Edenir Ines ^{[7
]}

Giraldo, Alejandro ^{[8
]}

Ashton-Prolla, Patricia ^{[9
]}

Alvarez, Karin ^{[4
]}

Ferro, Alejandra ^{[5
]}

Neffa, Florencia ^{[6
]}

Caris, Junea ^{[7
]}

Carraro, Dirce M. ^{[10
]}

Rossi, Benedito M. ^{[11
]}

机构：

[1] Univ Copenhagen, Hvidovre Hosp, Clin Res Ctr, Danish HNPCC Register, DK-2650 Hvidovre, Denmark

[2] Lund Univ, Inst Clin Sci, Dept Oncol, Lund, Sweden

[3] Lund Univ, Lund Transgen Core Facil Reprod Immunol, Unit Muscle Biol, Dept Expt Med Sci, Lund, Sweden

[4] Clin Los Condes, Mol Lab, Santiago, Chile

[5] Hosp Italiano Buenos Aires, Hereditary Canc Program, Buenos Aires, DF, Argentina

[6] Colaborat Uruguay Invest Afecc Oncol Hereditarias, Hosp Fuerzas Armadas, Montevideo, Uruguay

[7] Barretos Canc Hosp, Dept Oncogenet, Barretos, Brazil

[8] Univ Sinu, Fac Med, Monteria, Colombia

[9] Hosp Clin, Dept Genet UFRGS, Porto Alegre, RS, Brazil

[10] AC Camargo Hosp, Lab Genom & Mol Biol, Dept Mol Oncogenet, Sao Paulo, Brazil

[11] Hosp Sirio Libanes, Sao Paulo, Brazil

来源：

HEREDITARY CANCER IN CLINICAL PRACTICE | 2013年 / 11卷

关键词：

Lynch syndrome; MLH1; MSH2; South America; Mutation; NONPOLYPOSIS COLORECTAL-CANCER; BRAZILIAN FAMILIES; GERMLINE MUTATIONS; MISSENSE VARIANTS; MSH2; MUTATIONS; MLH1; HNPCC; GENE; MMR; CLASSIFICATION;

D O I：

10.1186/1897-4287-11-18

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system. Methods: We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included. Results: Disease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia. Conclusion: The South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.

引用

页数：9

共 31 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Classification of mismatch repair gene missense variants with PON-MMR [J].

Ali, Heidi ;

Olatubosun, Ayodeji ;

Vihinen, Mauno .

HUMAN MUTATION, 2012, 33 (04) :642-650

[3] Novel MLH1 duplication identified in Colombian families with Lynch syndrome [J].

Alonso-Espinaco, Virginia ;

Dolores Giraldez, Maria ;

Trujillo, Carlos ;

van der Klift, Heleen ;

Munoz, Jenifer ;

Balaguer, Francesc ;

Ocana, Teresa ;

Madrigal, Irene ;

Jones, Angela M. ;

Magdalena Echeverry, M. ;

Velez, Alejandro ;

Tomlinson, Ian ;

Mila, Montserrat ;

Wijnen, Juul ;

Carvajal-Carmona, Luis ;

Castells, Antoni ;

Castellvi-Bel, Sergi .

GENETICS IN MEDICINE, 2011, 13 (02) :155-160

[4] Spectrum of MLH1 and MSH2 Mutations in Chilean Families With Suspected Lynch Syndrome [J].

Alvarez, Karin ;

Hurtado, Claudia ;

Hevia, Montserrat A. ;

Wielandt, Ana Maria ;

de la Fuente, Marjorie ;

Church, James ;

Carvallo, Pilar ;

Lopez-Koestner, Francisco .

DISEASES OF THE COLON & RECTUM, 2010, 53 (04) :450-459

[5] hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients [J].

Apessos, A ;

Mihalatos, M ;

Danielidis, I ;

Kallimanis, G ;

Agnantis, NJ ;

Triantafillidis, JK ;

Fountzilas, G ;

Kosmidis, PA ;

Razis, E ;

Georgoulias, VA ;

Nasioulas, G .

BRITISH JOURNAL OF CANCER, 2005, 92 (02) :396-404

[6] MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families [J].

Borras, Ester ;

Pineda, Marta ;

Blanco, Ignacio ;

Jewett, Ethan M. ;

Wang, Fei ;

Teule, Alex ;

Caldes, Trinidad ;

Urioste, Miguel ;

Martinez-Bouzas, Cristina ;

Brunet, Joan ;

Balmana, Judith ;

Torres, Asuncion ;

Ramon y Cajal, Teresa ;

Sanz, Judit ;

Perez-Cabornero, Lucia ;

Castellvi-Bel, Sergi ;

Alonso, Angel ;

Lanas, Angel ;

Gonzalez, Sara ;

Moreno, Victor ;

Gruber, Stephen B. ;

Rosenberg, Noah A. ;

Mukherjee, Bhramar ;

Lazaro, Conxi ;

Capella, Gabriel .

CANCER RESEARCH, 2010, 70 (19) :7379-7391

[7] Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR) [J].

Chao, Elizabeth C. ;

Velasquez, Jonathan L. ;

Witherspoon, Mavee S. L. ;

Rozek, Laura S. ;

Peel, David ;

Ng, Pauline ;

Gruber, Stephen B. ;

Watson, Patrice ;

Rennert, Gad ;

Anton-Culver, Hoda ;

Lynch, Henry ;

Lipkin, Steven M. .

HUMAN MUTATION, 2008, 29 (06) :852-860

[8] Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry [J].

da Silva, Felipe Carneiro ;

de Oliveira, Ligia Petrolini ;

Santos, Erika Monteiro ;

Nakagawa, Wilson Toshihiko ;

Aguiar Junior, Samuel ;

Valentin, Mev Dominguez ;

Rossi, Benedito Mauro ;

Ferreira, Fabio de Oliveira .

FAMILIAL CANCER, 2010, 9 (04) :563-570

[9]

den Dunnen JT, 2000, HUM MUTAT, V15, P7

[10] Two new MLH1 germline mutations in Brazilian lynch syndrome families [J].

Dominguez, M. V. ;

Bastos, E. P. ;

Santos, E. M. M. ;

Oliveira, L. P. ;

Ferreira, F. O. ;

Carraro, D. M. ;

Rossi, B. M. .

INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2008, 23 (12) :1263-1264

← 1 2 3 4 →