ABSTRACT
Introducción: Los síntomas de depresión y ansiedad en pacientes que reciben Asesoramiento Genético en Oncología (AGO), se encuentran dentro de las afectaciones psicológicas más prevalentes, por lo que su identificación de forma oportuna, valida y confiable es prioritaria. Objetivo: Determinar las propiedades psicométricas del Cuestionario sobre la Salud del Paciente, PHQ-9, y de la Escala de Ansiedad Generalizada, GAD-7, en pacientes con cáncer portadores de variantes patogénicas germinales en genes de alta susceptibilidad. Método: Se empleó un diseño instrumental, transversal con un muestreo no probabilístico. Se incluyeron 163 participantes con variantes patogénicas en BRCA1/BRCA2, asociadas a cáncer hereditario, entre 19 y 79 años, (48,2 ± 11,2 años). Resultados: La validez de constructo de cada instrumento se probó a través de un análisis factorial exploratorio y confirmatorio. La GAD-7 obtuvo un α = 0,899 y 62,3 % de la varianza explicada, por otro lado, el PHQ- 9 obtuvo un α = 0,896 y 54,8 % de la varianza explicada. El análisis factorial confirmatorio sugiere que los modelos teóricos de ambos instrumentos se ajustan a un solo factor, con una consistencia e índices de validez adecuados. Discusión y conclusión: El PHQ-9 y la GAD-7 son instrumentos parsimoniosos, breves, válidos y confiables para la detección de síntomas de depresión y ansiedad en pacientes que reciben AGO, en población mexicana. Se recomienda su uso en la atención clínica (al inicio, y durante el seguimiento), así como en investigaciones futuras (AU)
Introduction: The symptoms of depression and anxiety in patients receiving Genetic Counseling in Oncology (AGO) are among the most prevalent psychological affectations, so their timely, valid, and reliable identification is a priority. Objective: To determine the psychometric properties of the Patient Health Questionnaire, PHQ-9, and the Generalized Anxiety Scale, GAD-7, in cancer patients carrying germinal pathogenic variants in high susceptibility genes. Method: An instrumental, cross-sectional design was used with a non-probabilistic sampling. 163 participants with pathogenic variants in BRCA1/BRCA2, associated with hereditary cancer, between 19 and 79 years (48.2 ± 11.2 years) were included. Statistical analysis: The construct validity of each instrument was tested through an exploratory and confirmatory factor analysis. Results: The GAD-7 obtained α = 0.899 and 62.3% of the explained variance, on the other hand, the PHQ-9 obtained α = 0.896 and 54.8% of the explained variance. Confirmatory factor analysis suggests that the theoretical models of both instruments fit a single factor, with adequate consistency and validity indices. Discussion and conclusion: The PHQ-9 and the GAD-7 are parsimonious, brief, valid and reliable instruments for the detection of symptoms of depression and anxiety in patients receiving AGO, in the Mexican population. Its use is recommended in clinical care (at baseline, and during follow-up), as well as in future research (AU)
Subject(s)
Humans , Female , Adolescent , Young Adult , Adult , Middle Aged , Aged , Patient Health Questionnaire , Anxiety/diagnosis , Psychometrics , Genetic Counseling , Breast Neoplasms/genetics , Ovarian Neoplasms/genetics , Cross-Sectional StudiesABSTRACT
Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been few reports regarding the clinical and molecular characteristics of LS patients in Latin America; this is particularly true in the Mexican population, where no information is available. The present study aims to describe the clinical and molecular spectrum of variants in a cohort of patients diagnosed with LS in Mexico. We present a retrospective analysis of 412 patients with suspected LS, whose main site of cancer diagnosis was the colon (58.25%), followed by the endometrium (18.93%). Next-generation sequencing analysis, with an extensive multigene panel, showed that 27.1% (112/414) had a variant in one of the genes of the mismatch repair pathway (MMR); 30.4% (126/414) had a variant in non-MMR genes such as CHEK2, APC, MUTYH, BRCA1, and BRCA2; and 42.5% (176/414) had no genetic variants. Most of the variants were found in MLH1. Pathogenic variants (PVs) in MMR genes were identified in 65.7% (96/146) of the total PVs, and 34.24% (45/146) were in non-MMR genes. Molecular and clinical characterization of patients with LS in specific populations allowed personalized follow-up, with the option for targeted treatment with immune checkpoint inhibitors and the development of public health policies. Moreover, such characterization allows for family cascade testing and consequent prevention strategies.
Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , DNA Mismatch Repair/genetics , DNA-Binding Proteins/genetics , Female , Germ-Line Mutation , Humans , Immune Checkpoint Inhibitors , Mexico/epidemiology , MutS Homolog 2 Protein/genetics , Retrospective StudiesABSTRACT
The deletion of exons 9 to 12 of BRCA1 (9-12 del BRCA1) is considered a founder mutation in the Mexican population. We evaluate the usefulness of the target detection of 9-12 del BRCA1 as the first molecular diagnostic strategy in patients with Hereditary Breast and Ovarian Cancer (HBOC). We performed the genetic assessment of 637 patients with suspected HBOC. The region corresponding to the breakpoints for the 9-12 del BRCA1 was amplified by polymerase chain reaction (PCR). An analysis of the clinical data of the carriers and non-carriers was done, searching for characteristics that correlated with the deletion. The 9-12 del BRCA1 was detected in 5% of patients with suspected HBOC (30/637). In patients diagnosed with ovarian cancer, 13 of 30 were 9-12 del BRCA1 carriers, which represents 43%. We found a significant association between the 9-12 del BRCA1 carriers with triple negative breast cancer and high-grade papillary serous ovarian cancer. We concluded that the detection of the 9-12 del BRCA1 is useful as a first molecular diagnostic strategy in the Mexican population. In particular, it shortens the gap in genetic assessment in patients with triple negative breast cancer and ovarian cancer.
