The development of the study of hereditary cancer in South America

ROSSI, BENEDITO MAURO; SARROCA, CARLOS; VACCARO, CARLOS; LOPEZ, FRANCISCO; ASHTON-PROLLA, PATRICIA; FERREIRA, FABIO DE OLIVEIRA; SANTOS, ERIKA MARIA MONTEIRO

GENETICS AND MOLECULAR BIOLOGY

SOC BRASIL GENETICA

Año: 2016 vol. 39 p. 166 - 167

1415-4757

In 1989, at the beginning of the information age andits possibilities for the organization of databases, we implementeda system to collect clinical, individual and familydata when there was suspicion of hereditary predispositionto cancer. It was a success because before it had never beenso easy to retrieve data files. This database was extremelyhelpful and boosted the registry and the study of these individualsand families. With the possibility of retrieving data,we could precisely know the number of cases of cancer inyoung patients and relate these with the history of cancer inthe family.As a consequence of the organization of informationon patients and their families, we organized in 1992 the firstBrazilian Hereditary Colorectal Tumor Registry. One ofthe first fruits of the Registry occurred in 1994 with the firstmolecular diagnosis of Familial Adenomatous Polyposis(FAP) in a Brazilian family with mutation in the APC gene,located at codon 1,291. As we know, the organization ofdata, including clinical and molecular information, is fundamentalto the management of individuals/families at highrisk for hereditary cancer.