RESUMEN
MDR1, which is encoded by the ABCB1 gene, is involved in multidrug resistance (hydrophobic), as well as the elimination of xenotoxic agents. The association between ABCB1 gene polymorphisms and breast cancer risk in different populations has been described previously; however, the results have been inconclusive. In this study, we examined the association between polymorphisms 3435 C/T and 1236 C/T in the ABCB1 gene and breast cancer development in Mexican women according to their menopausal status and molecular classification. Molecular subtypes as well as allele and genotype frequencies were analyzed. A total of 248 women with initial breast cancer diagnosis and 180 ethnically matched, healthy, unrelated individuals were enrolled. Polymerase chain reaction-restriction fragment length polymorphism was performed to detect polymorphisms 3435 C/T and 1236 C/T in the ABCB1 gene. Premenopausal T allele carriers of the 3435 C/T polymorphism showed a 2-fold increased risk of breast cancer with respect to the reference and postmenopausal groups, as well as triple-negative expression regarding the luminal A/B molecular subrogated subtypes. In contrast, the CT genotype of the 1236 polymorphism was a protective factor against breast cancer. We conclude that the T allele carrier of the 3435 C/T polymorphism in the ABCB1 gene in combination with an estrogen receptor-negative status may be an important risk factor for breast cancer development in premenopausal women.
Asunto(s)
Neoplasias de la Mama/etnología , Neoplasias de la Mama/genética , Regulación Neoplásica de la Expresión Génica , Polimorfismo de Nucleótido Simple , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Etnicidad , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , México , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Posmenopausia , Premenopausia , Factores de RiesgoRESUMEN
INTRODUCTION: Head and neck cancer treatment restricts oral intake and conditioning malnutrition. Adequate nutritional support during treatment can limit the impact of side effects. OBJECTIVE: To describe EORTC QLQ-C30 role for malnutrition risk screening in head and neck cancer patients. METHODS: Analytical and cross-sectional, diagnostic test study in head and neck cancer patients. We correlated malnutrition diagnosis with subjective global assessment (SGA) and score for the EORTC QLQ-C30 scales with Pearson and Spearman correlation. We realized COR (Receiver Operating Characteristic) curves to calculate cut point in the score for the EORTC QLQ-C30 scales; we calculated sensitivity, specificity, positive predictive value, negative predictive value and Odds Ratio through logistic regression. RESULTS: Functional scales (role, physic, global health status/QoL) showed limited utility to malnutrition risk estimation in people with head and neck cancer. Symptoms' scales with strong association were: pain (sensitivity 76.47%, specificity 69.23%), insomnia (sensitivity 88.24%, specificity 53.85%), fatigue (sensitivity 70.59%, specificity 76.92%). CONCLUSIONS: EORTC QLQ-C30 questionnaire is a useful tool to early malnutrition diagnosis in head and neck cancer patients with short term results in nutritional condition, treatment response and a better QoL in this kind of patients.