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Chialina, S.G., Fornes, C., Landi, C., de la Vega Elena, C.D., Nicolorich, M.V., Dourisboure, R.J.,
et al., 2006. Microsatellite instability analysis in hereditary non-polyposis colon cancer using
the Bethesda consensus panel of microsatellite markers in the absence of proband normal tis-
sue. BMC Med. Genet. 7, 5.
Clarizia, A.D., Bastos-Rodrigues, L., Pena, H.B., Anacleto, C., Rossi, B., Soares, F.A., et al., 2006.
Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with micro-
satellite instability and promoter hypermethylation in sporadic colorectal cancer. Genet. Mol.
Res. 5 (2), 315–322.
Cruz-Bustillo, D., Villasana, L., Llorente, F., Casadesús, D., García, E., Syrris, P., et al., 2002.
Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban
families. Int. J. Colorectal Dis. 17 (5), 344–347.
Cruz-Correa, M., Diaz-Algorri, Y., Mendez, V., Vazquez, P.J., Lozada, M.E., Freyre, K., et al., 2013.
Clinical characterization and mutation spectrum in Hispanic families with adenomatous pol-
yposis syndromes. Fam. Cancer 12 (3), 555–562.
Cruz-Correa, M., Diaz-Algorri, Y., Pérez-Mayoral, J., Suleiman-Suleiman, W., del Mar Gonzalez-
Pons, M., Bertrán, C., et al., 2015. Clinical characterization and mutation spectrum in Carib-
bean Hispanic families with Lynch syndrome. Fam. Cancer 14 (3), 415–425.
Da Silva, F.C., Wernhoff, P., Dominguez-Barrera, C., Dominguez-Valentin, M., 2016. Update on
hereditary colorectal cancer. Anticancer Res. 36, 4399–4406.
de Freitas, I.N., de Campos, F.G.C.M., Alves, V.A.F., Cavalcante, J.M., Carraro, D., Coudry, R., de, A.,
et al., 2015. Proficiency of DNA repair genes and microsatellite instability in operated colorec-
tal cancer patients with clinical suspicion of lynch syndrome. J. Gastrointest Oncol. 6 (6),
628–637.
De Jesus-Monge, W.E., Gonzalez-Keelan, C., Zhao, R., Hamilton, S.R., Rodriguez-Bigas, M., Cruz-
Correa, M., 2010. Mismatch repair protein expression and colorectal cancer in Hispanics from
Puerto Rico. Fam. Cancer 9 (2), 155–166.
De La Fuente, M.K., Alvarez, K.P., Letelier, A.J., Bellolio, F., Acuña, M.L., León, F.S., et al., 2007.
Mutational screening of the APC gene in Chilean families with familial adenomatous polypo-
sis: nine novel truncating mutations. Dis. Colon Rectum 50 (12), 2142–2148.
De Queiroz Rossanese, L.B., De Lima Marson, F.A., Ribeiro, J.D., Coy, C.S.R., Bertuzzo, C.S., 2013.
APC germline mutations in families with familial adenomatous polyposis. Oncol. Rep. 30
(5), 2081–2088.
De Rosa, M., Dourisboure, R.J., Morelli, G., Graziano, A., Gutiérrez, A., Thibodeau, S., et al., 2004.
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC
mutations. Hum. Mutat. 23 (5), 523–524.
Delgado, L., Fernández, G., Grotiuz, G., Cataldi, S., González, A., Lluveras, N., et al., 2011. BRCA1
and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identi-
fication of novel mutations and unclassified variants. Breast Cancer Res. Treat. 128 (1), 211–218.
Dominguez-Valentin, M., Nilbert, M., Wernhoff, P., López-Köstner, F., Vaccaro, C., Sarroca, C.,
et al., 2013. Mutation spectrum in South American Lynch syndrome families. Hered Cancer
Clin. Pract. 11 (1), 18.
Dominguez-Valentin, M., Therkildsen, C., Da Silva, S., Nilbert, M., 2015. Familial colorectal cancer
type X: genetic profiles and phenotypic features. Mod. Pathol. 28 (1), 30–36.
Dominguez-Valentin, M., Wernhoff, P., Cajal, A.R., Kalfayan, P.G., Piñero, T.A., Gonzalez, M.L.,
et al., 2016. MLH1 Ile219Val polymorphism in Argentinean families with suspected Lynch
syndrome. Front. Oncol. 6, 189.
Egoavil, C.M., Montenegro, P., Soto, J.L., Casanova, L., Sanchez-Lihon, J., Castillejo, M.I., et al., 2011.
Clinically important molecular features of Peruvian colorectal tumours: high prevalence of DNA
mismatch repair deficiency and low incidence of KRAS mutations. Pathology 43 (3), 228–233.