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78 CHAPTER 5: Screening for Hereditary Cancer in Latin America
Rearrange- ments 5/940 2/349 5/145 0 ND ND
Number of Recurrent Muta- tions (% of total carriers) 15(61%) 8 (52%) ND 6 (65.2%) 1 (25%) 0
Number of Mutations Novel Total 8 58 6 43 ND ND 4 14 0 6 3 4
Families With Muta- tion (%) BRCA2 BRCA1 74/940 105/940 (7.9%) (11.1%) 26/349 49/349 (7.4%) (14%) ND ND 12/326 11/326 (3.7%) (3.3%) 7/307 1/307 (2.3%) (0.3%) 2/39 2/39 (5.1%) (5.1%) CSGE, Conformation sensitive gel electrophoresis; DGGE, denaturing gradient gel electrophoresis; DHPLC, denaturing high-performance liquid chromatography; HDA, heteroduplex ana
Other Studies in Latin American Breast Cancer Patients
Screening Method Sanger Sequencing, NGS, MLPA Sanger Sequencing, NGS, MLPA MLPA CSGE, MLPA PTT, DGGE NGS
Number of Patients 940 349 145 326 307 39 PTT, protein truncation test; SSCP, single-stranded conformational polymorphism. aIncludes results from Solano et al. (2012). bIncludes results from Jara et al. (2006).
Table 5.3 Study Population Argentina a Vaca- Paniagua et al. (2012) Brazil Solano et al. (2016) Brazil Villarreal- Garza et al. (2015a) Chile b Alvarez et al. (2017) Cuba Rodriguez et al. (2008) Mexico Gonzalez- Hormazabal et al. (2011)
