Chile has the world’s highest rate of incidence as well as death from cancer of the gallbladder and biliary ducts. The problem is most acute in the southern provinces. These areas constitute the low average income associated with low educational attainment and a high rate of obesity compared with the rest of Chile. We could also include genetic factors related to processes of lithogenesis to these elements which are more common among the Mapuche. This population sub-group could benefit from special government programmes for early diagnosis and treatment of lithiasic disease and for the management of risk factors such as obesity. In this way, we could reduce the mortality rate of gallbladder cancer.

The results after 6 years of a prospective clinical trial of adjuvant chemotherapy with a regimen of two drugs--cyclophosphamide and 5-fluorouracil (CF)-- for 2 years in 97 women with stage II or III breast cancer are reported. Eligible patients were free from distant metastases. All patients began adjuvant therapy within 4 weeks of surgery; therapy consisted of radical, modified, or extended radical mastectomy. No postoperative radiotherapy was given. The results are compared with a historical control group from previous consecutive patients treated by surgery alone. Patients were stratified by age (younger than 50 or older than or equal to 50) and nodal status (one to three positive axillary nodes vs. four or more positive nodes). The estimated 6-year survival was 60% for CF patients vs. 31% for control patients (P = 0.001). The estimated 6-year disease-free survival was 53.6 and 30.3% for CF and control, respectively (P = 0.007). There was a trend toward longer disease-free survival (DFS) and survival (S) in patients treated with CF, but this was not significant in all the subgroups. Disease-free survival was statistically significant in the subgroup of women greater than or equal to 50 years old with one to three positive nodes (P = 0.038); survival in the patients less than or equal to 49 years old with four or more positive nodes (P = 0.0036); and in patients greater than or equal to 50 years old with one to three lymph nodes involvement (P = 0.038).

Met, asociado con una menor respuesta a metformina, se encontró presente en Amantaní (8,3%) y Lima (9,6%), y ausente en Taquile. Conclusiones: Para el alelo Val del gen OCT1, se ha encontrado la más alta frecuencia registrada en el mundo. Respecto al alelo Met, aunque es menos frecuente, existen diferencias entre las subpoblaciones peruanas evaluadas, y ese conocimiento puede ayudar en la farmacogenética y la toma de decisiones en el tratamiento con los antidiabéticos orales como la metformina. Palabras clave: Farmacogenética; Gen OCT1; Polimorfismo Val/Met; Diabetes; Metformina; Lima, Puno, Perú. Abstract Introduction: Pharmacogenetics can be used in clinical analysis to assess the efficiency of drugs according to the patient's genetic profile, and it is becoming important for population genetics and precision medicine. The type 2 diabetes mellitus (T2DM) is highly prevalent all over the world, including Peru. Among the different drugs for T2DM, metformin is used the most and patient's response to it can be influenced by the Val/Met polymorphism of the OCT1 (SLC22) gene, where Met is associated with a lower response. . The Val allele frequency was higher than 93%, the Met allele was associated with a lower response to metformin and was present in Amantaní (8.3%) and in Lima (9.6%), and absent in Taquile. Conclusions: We found the highest Val allele frequency in the world. Regarding the Met allele, less frequent, we found differences among the Peruvian subpopulations tested, and this knowledge can help in the pharmacogenetics and decision making about oral treatment of metformin against diabetes.

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