Page 94 - Genomic Medicine in Emerging Economies

Lynch Syndrome 83

Hereditary Lynch Syndrome Registries in Latin America
According to the Study Group on Hereditary Tumors (GETH, http://www.
geth.org.br/novo/) and a recent thorough investigation of most of the Latin
American countries, there are 32 hereditary cancer care centers in Latin
America: 5 in Argentina, 1 in Bolivia, 20 in Brazil, 1 in Chile, 1 in Colombia, 1
in Mexico, 1 in Peru, 1 in Puerto Rico and 1 in Uruguay (Vaccaro et al., 2016;
Rossi et al., 2017). These registries differ in fundamental aspects of function,
capabilities and funding, but are able to conduct high quality clinical, research
and educational activities because of the dedication and personal effort of
their members, and organizational support (Cruz-Correa et al., 2015; Vaccaro
et al., 2016).
Limitation on genetic testing has an impact in the evaluation of patients at
risk for hereditary cancer and their relatives, and ultimately increases the bur-
den of cancer for this minority population (Cruz-Correa et al., 2015). In Latin
America, genetic testing is not routinely available in the public health system,
with the exception of a few studies conducted in research institutes or private
institutions. For instance, until recently the coverage of oncogenetic services,
that is, in Brazil, was restricted to less than 5% of the population. However,
a significant advance took place in 2012, when the coverage of genetic test-
ing by private health care plans became mandatory in Brazil, currently cover-
ing around 20%–30% of the population (Viana et al., 2008; Ashton-Prolla
and Seuanez, 2016). In Puerto Rico, insurance coverage for genetic testing in
hereditary cancer risk assessment has been included in the Affordable Care Act
; however, the genetic testing for Lynch syndrome is not directly mandated by
the Act (Cruz-Correa et al., 2015). In this regard, Medicare covers genetic test-
ing for Lynch syndrome for individuals who meet AMS criteria or Bethesda
guidelines, per the National Comprehensive Cancer Network (NCCN) (Cruz-
Correa et al., 2015).

Mutation, Molecular and Clinical Profile of Lynch Syndrome in
Latin America
We recently characterized the clinical, molecular and MMR variants spectrum
of families from eleven Lynch syndrome hereditary cancer registries and pub-
lished databases from Latin America (Roque et al., 2000; Rossi et al., 2002;
Giraldo et al., 2005; Sarroca et al., 2005; Chialina et al., 2006; Clarizia et al.,
2006; Montenegro et al., 2006; Vaccaro et al., 2007a,b; Viana et al., 2008; Alva-
rez et al., 2010; De Jesus-Monge et al., 2010; Leite et al., 2010; Ricker et al., 2010a;
Alonso-Espinaco et al., 2011; Egoavil et al., 2011; Koehler-Santos et al., 2011;
Valentin et al., 2011; Ramírez-Ramírez et al., 2012; Rasuck et al., 2012; Santos
et al., 2012; Valentin et al., 2012; Wielandt et al., 2012; Dominguez-Valentin
et al., 2013; Castro-Mujica et al., 2014; Marqués-Lespier et al., 2014; Nique
Carbajal et al., 2014; Carneiro da Silva et al., 2015; Cruz-Correa et al., 2015;