BACKGROUND: Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. AIM: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. MATERIALS AND METHODS: DNA was obtained from peripheral blood and polymerase chain reaction (PCR) was performed, followed by direct sequencing. RESULTS: The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. CONCLUSION: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
BACKGROUND: Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. AIM: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features. MATERIALS AND METHODS: DNA was obtained from peripheral blood and polymerase chain reaction (PCR) was performed, followed by direct sequencing. RESULTS: The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. CONCLUSION: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
Authors: Carlos A Vaccaro; Carlos Sarroca; Benedito Rossi; Francisco Lopez-Kostner; Mev Dominguez; Natalia Causada Calo; Raul Cutait; Adriana Della Valle; Lina Nuñez; Florencia Neffa; Karin Alvarez; Maria Laura Gonzalez; Pablo Kalfayan; Henry T Lynch; James Church Journal: Fam Cancer Date: 2016-07 Impact factor: 2.375
Authors: Mev Dominguez-Valentin; Patrik Wernhoff; Andrea R Cajal; Pablo G Kalfayan; Tamara A Piñero; Maria L Gonzalez; Alejandra Ferro; Ines Sammartino; Natalia S Causada Calo; Carlos A Vaccaro Journal: Front Oncol Date: 2016-08-24 Impact factor: 6.244
Authors: Benedito Mauro Rossi; Edenir Inêz Palmero; Francisco López-Kostner; Carlos Sarroca; Carlos Alberto Vaccaro; Florencia Spirandelli; Patricia Ashton-Prolla; Yenni Rodriguez; Henrique de Campos Reis Galvão; Rui Manuel Reis; André Escremim de Paula; Luis Gustavo Capochin Romagnolo; Karin Alvarez; Adriana Della Valle; Florencia Neffa; Pablo German Kalfayan; Enrique Spirandelli; Sergio Chialina; Melva Gutiérrez Angulo; Maria Del Carmen Castro-Mujica; Julio Sanchez de Monte; Richard Quispe; Sabrina Daniela da Silva; Norma Teresa Rossi; Claudia Barletta-Carrillo; Susana Revollo; Ximena Taborga; L Lena Morillas; Hélène Tubeuf; Erika Maria Monteiro-Santos; Tamara Alejandra Piñero; Constantino Dominguez-Barrera; Patrik Wernhoff; Alexandra Martins; Eivind Hovig; Pål Møller; Mev Dominguez-Valentin Journal: BMC Cancer Date: 2017-09-05 Impact factor: 4.430
Authors: Carlos Alberto Vaccaro; Francisco López-Kostner; Della Valle Adriana; Edenir Inez Palmero; Benedito Mauro Rossi; Marina Antelo; Angela Solano; Dirce Maria Carraro; Nora Manoukian Forones; Mabel Bohorquez; Leonardo S Lino-Silva; Jose Buleje; Florencia Spirandelli; Kiyoko Abe-Sandes; Ivana Nascimento; Yasser Sullcahuaman; Carlos Sarroca; Maria Laura Gonzalez; Alberto Ignacio Herrando; Karin Alvarez; Florencia Neffa; Henrique Camposreis Galvão; Patricia Esperon; Mariano Golubicki; Daniel Cisterna; Florencia C Cardoso; Giovana Tardin Torrezan; Samuel Aguiar Junior; Célia Aparecida Marques Pimenta; Maria Nirvana da Cruz Formiga; Erika Santos; Caroline U Sá; Edite P Oliveira; Ricardo Fujita; Enrique Spirandelli; Geiner Jimenez; Rodrigo Santa Cruz Guindalini; Renata Gondim Meira Velame de Azevedo; Larissa Souza Mario Bueno; Sonia Tereza Dos Santos Nogueira; Mariela Torres Loarte; Jorge Padron; Maria Del Carmen Castro-Mujica; Julio Sanchez Del Monte; Carmelo Caballero; Carlos Mario Muñeton Peña; Joseph Pinto; Claudia Barletta-Carrillo; Gutiérrez Angulo Melva; Tamara Piñero; Paola Montenegro Beltran; Patricia Ashton-Prolla; Yenni Rodriguez; Richard Quispe; Norma Teresa Rossi; Claudia Martin; Sergio Chialina; Pablo German Kalfayan; Juan Carlos Bazo-Alvarez; Alcides Recalde Cañete; Constantino Dominguez-Barrera; Lina Nuñez; Sabrina Daniela Da Silva; Yesilda Balavarca; Patrik Wernhoff; John-Paul Plazzer; Pål Møller; Eivind Hovig; Mev Dominguez-Valentin Journal: Int J Cancer Date: 2018-12-05 Impact factor: 7.396
Authors: Luís S Santos; Octávia M Gil; Susana N Silva; Bruno C Gomes; Teresa C Ferreira; Edward Limbert; José Rueff Journal: Genes (Basel) Date: 2020-09-17 Impact factor: 4.096