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Title: A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
Authors: Rossi, Benedito Mauro
Palmero, Edenir Inêz
López Kostner, Francisco
Sarroca, Carlos
Vaccaro, Carlos Alberto
Spirandelli, Florencia
Ashton Prolla, Patricia
Rodriguez, Yenni
de Campos Reis Galvão, Henrique
Reis, Rui Manuel
Escremim de Paula, André
Capochin Romagnolo, Luis Gustavo
Alvarez, Karin
Della Valle, Adriana
Neffa, Florencia
Kalfayan, Pablo German
Spirandelli, Enrique
Chialina, Sergio
Gutiérrez Angulo, Melva
Castro Mujica, Maria del Carmen
Sanchez de Monte, Julio
Quispe, Richard
da Silva, Sabrina Daniela
Rossi, Norma Teresa
Barletta Carrillo, Claudia
Revollo, Susana
Taborga, Ximena
Morillas, L. Lena
Tubeuf, Hélène
Monteiro Santos, Erika Maria
Piñero, Tamara Alejandra
Dominguez Barrera, Constantino
Wernhoff, Patrik
Martins, Alexandra
Hovig, Eivind
Møller, Pål
Dominguez Valentin, Mev
Keywords: Lynch syndrome
Latin America
Issue Date: Sep-2017
Citation: Rossi B.M., Palmero E.I.,López-Kostner F., Sarroca C., Vaccaro C.A., Spirandelli F., Ashton-Prolla P., Rodriguez Y., de Campos Reis Galvão H., Reis R.M., Escremim de Paula A., Capochin Romagnolo L.G., Alvarez K., Della Valle A., Neffa F., Kalfayan, P.G., Spirandelli, E., Chialina S., Gutiérrez Angulo M., Castro-Mujica, M.C., Sanchez de Monte J., Quispe, R., da Silva, S.D., Rossi, N.T., Barletta-Carrillo C., Revollo S., Taborga X., Morillas, L.L., Tubeuf H., Monteiro-Santos E.M., Piñero T.A., Dominguez-Barrera C., Wernhoff P., Martins A., Hovig E., Møller P., Dominguez-Valentin M. (2017). A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. BMC Cancer. (2017) 17:623.
Series/Report no.: BMC Cancer;(2017) 17:623
Abstract: Background Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. Methods Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. Results We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. Conclusion The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.
ISSN: 1471-2407
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