The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Introduction: Cancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary breast and ovarian cancer predisposition syndrome (HBOC). Methods: This study encompasses four time points: before the CGC session, after the CGC session when blood is drawn for GT, after disclosure of GT results, and six months following disclosure of GT results. The impacts of CGC and GT were assessed using psychosocial questionnaires. Additionally, a pedigree, genogram, and ecomap were constructed through a semistructured interview. Results: A total of sixty women were included in the study. Most participants considered their perception of cancer risk to be equivalent to that of the general population, even among those with pathogenic variants. An increased perception of breast and ovarian cancer risks was associated with a heightened inclination toward religious engagement as a coping mechanism. Patients carrying variants of uncertain significance expressed greater concerns about developing another cancer compared to those who had BRCA1 and BRCA2 wild type or pathogenic variants. Qualitative analysis of the genograms and ecomaps demonstrated that the CGC/GT processes facilitate communication within families. The genogram analyses revealed the impact of CGC and GT processes on families at risk for hereditary cancer. Changes in some family relationships were observed, and an improvement in communication was noted following the GT process. Discussion: These findings can assist healthcare professionals considering a personalized approaches in clinical practice.

Qualidade de vida de mulheres com linfedema após cirurgia por câncer de mama / Quality of life of women with lymphedema after surgery for breast cancer / Calidad de vida de mujeres con linfedema después de cirugía por cáncer de mama

Estudo avaliou a qualidade de vida de 20 mulheres com linfedema pós-mastectomia por câncer de mama, com uso da Escala de Qualidade de Vida de Flanagan adaptada (1) e Escala Visual Analógica (2), com coleta de dados de julho a dezembro de 2009, no interior do estado de São Paulo, Brasil. Observou-se menor qualidade de vida quanto participação em atividades de recreação e trabalho, melhor qualidade de vida foram relacionamento com amigos; ouvir música, ler, assistir à TV, ir ao cinema. O alfa de Cronbach da Escala 1 foi 0,86 e a Média da Escala 2 foi 6,26. Globalmente, as Escalas mostraram resultados de qualidade de vida satisfatória, porém baixos valores evidenciam fatores que devem ser trabalhados, como a participação em atividades esportivas, trabalho e aprendizado. Assim, o linfedema interfere na qualidade de vida, indicando necessidade de intervenções precoces, no sentido de auxiliar as mulheres a alcançar melhor qualidade de vida.

This study evaluated the quality of life of 20 women with post-mastectomy lymphedema due to breast cancer, using the Flanagan’s Adapted Quality of Life Scale (1) and the Visual Analogue Scale (2), with data collection from July to December2009 in the countryside of the state of São Paulo. It was observed a lower quality of life concerning participation in recreational and work activities, and better quality of life was related to relationship with friends; listening to music, reading, watching TV and going to the movies. Cronbach’s alpha of Scale 1 was 0.86 and the average of Scale 2 was 6.26. Overall, the scales showed satisfactory results of quality of life, but low values showed factors that must be worked out, such as participation in sports, work and learning activities. Thus, lymphedema interferes with the quality of life, indicating a need for early intervention in order to help women achieve better quality of life.

Estudio evaluó la calidad de vida de 20 mujeres con linfedema post mastectomía por cáncer mamario, con uso de la Escalas de Calidad de Vida de Flanagan adaptada (1) y Escala Visual Analógica (2), con recopilación de datos de julio a diciembre de 2009, en interior del São Paulo, Brasil. Se observó menor calidad de vida en la participación en actividades de ocio y trabajo; mejor calidad de vida fueron: relación con amigos, escuchar música, leer, ver TV e ir al cine. O alfa de Cronbach para Escala 1 fue 0,86 y para Escala 2, 6,26. Las escalas señalaron, globalmente, resultados satisfactorios de calidad de vida, pero,bajos valores comprueban existencia de factores que deben ser discutidos, como la participación en recreación, actividades deportivas, trabajo y aprendizaje. El linfedema interfiere en la calidad de vida, indicando necesidad de intervenciones tempranas para ayudar las mujeres a lograr mejor calidad de vida.