Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.

PURPOSE: Genetic cancer risk assessment (GCRA) provides pathogenic variant (PV) carriers with the invaluable opportunity to undertake timely cancer risk-reducing (RR) measures and initiate cascade testing (CT). This study describes the uptake of these strategies and the related barriers among breast cancer-associated germline PV carriers in Mexico. METHODS: Carriers who were at least 6 months after disclosure of genetic test results at two GCRA referral centers were invited to answer a survey assessing sociodemographic characteristics, awareness of their carrier status and its implications, uptake of RR measures according to international guidelines by PV, CT initiation, and associated challenges. RESULTS: Of the eligible carriers, 246/384 (64%) answered the survey (median age: 44 years). Most were female (88%), married/in domestic partnership (66%), and had personal breast/ovarian cancer history (61%). PVs included BRCA1/2 (75%), CHEK2 (10%), PALB2 (5%), ATM (5%), NF1 (2%), RAD51C (2%), PTEN (1%), and TP53 (1%). Most (87%) participants were aware of their carrier status. When recommended, 37% underwent RR bilateral mastectomy, 48% RR oophorectomy, 70% annual mammogram, and 20% breast magnetic resonance imaging. Challenges hindering the uptake of RR measures included financial limitations (67%), lack of recommendation by their physician (35%), and fear (24%). Nearly all (98%) claimed sharing their results with their relatives. CT was initiated in 63% of families and was associated with carriers being married/in domestic partnership (P = .04) and believing GCRA was useful (P < .001). CONCLUSION: Despite the resource-constrained setting, relevant rates of RR measures and CT were observed. Targeted interventions to reduce out-of-pocket expenses and improve patient-physician communication and patients' understanding on carrier status are warranted to enhance the overall benefit of GCRA and ultimately improve the provision of patient-centered care to both carriers and their at-risk relatives.

Time intervals to care and health service use experiences of uninsured cancer patients treated under public financing in Mexico City.

BACKGROUND: The present study assesses the time intervals from symptom discovery to treatment start and describes the health service use experiences of uninsured patients with cancer of the breast, cervix uteri, testicle, and prostate before their arrival to the cancer hospital. METHODS: This cross-sectional study included 1468 patients who were diagnosed between June 2016 and May 2017 and received treatment for the selected cancers in two of the largest public cancer hospitals in Mexico City, financed through Seguro Popular. Data was collected through a survey administered via face-to-face interviews with patients and a review of their medical files. RESULTS: The median time between detection (symptom discovery or first abnormal screening test) and treatment start was 6.6 months. For all types of cancer, the longest interval was the diagnostic interval -between the first use of healthcare services and the confirmation of cancer. Less than 20% cancer patients were diagnosed in the earliest stages that are associated with the best chances of long-term survival. The participants described a high use of private services for their first consultation, the use of several different types of health services and multiple consultations before arrival to the cancer centers, and 35% perceived being misdiagnosed by the first doctor they consulted. CONCLUSIONS: Most cancer patients treated in the two largest public institutions available for the uninsured faced long delays to get diagnosed and started treatment at advanced stages. Strengthening quality and access for effective early cancer diagnosis and treatment is key to improve patient outcomes in low and middle-income settings.

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.

OBJECTIVE: Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). MATERIALS AND METHODS: The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. RESULTS: Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. CONCLUSION: A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.

Barriers and Facilitators for the Implementation of Geriatric Oncology Principles in Mexico: A Mixed-Methods Study.

PURPOSE: There is limited information regarding the use of the geriatric assessment (GA) for older adults with cancer in developing countries. We aimed to describe geriatric oncology practice among Mexican oncology professionals and to identify barriers and facilitators for the implementation of GA into the routine care of older adults with cancer in Mexico. METHODS: We conducted an explanatory sequential mixed-methods study. We administered an online survey to cancer specialists in Mexico about the routine use of GA and barriers for its use. We then conducted online semistructured interviews with survey respondents selected by their use of GA, expanding on barriers and facilitators for performing GA. Descriptive statistical analyses were performed for quantitative data; qualitative data were analyzed inductively through thematic analysis. We developed joint displays to integrate quantitative/qualitative results. RESULTS: We obtained 196 survey responses: 37 physicians (18.9%) reported routinely performing a GA. Medical oncologists (P = .002) and physicians seeing ≤ 10 patients/day (P = .010) were more likely to use GA. The most frequent barriers for GA use were lack of qualified personnel (49%), limited knowledge (43.9%), and insufficient time (37.2%). In the interviews (n = 22), the limited availability of geriatricians was commonly mentioned. Respondents highlighted the lack of geriatric oncology knowledge among cancer specialists and geriatricians. Saturation of oncology services and a lack of effective referral pathways for GA were also common issues. Facilitators included availability of geriatricians, system/administrative facilitators, presence of a multidisciplinary team, and availability of geriatric oncology education. CONCLUSION: The routine use of geriatric oncology principles in Mexico is limited by the availability of qualified personnel and by insufficient knowledge. An educational intervention could improve the implementation of GA in cancer care.

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer / Variantes patóge nas de línea germinal en mexicanas con cáncer de mama triple negativo hereditario

Abstract: Objective: Describe the prevalence of breast cancer (BC)-associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods: The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. Results: Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. Conclusion: A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.

Resumen: Objetivo: Describir la prevalencia de variantes patógenas (VPs) germinales en genes asociados con cáncer de mama (CM) en pacientes mexicanos con CM triple negativo (CMTN). Material y métodos: Se analizó el espectro de VPs identificadas en pacientes con CMTN que fueron incluidos prospectivamente en un registro y se realizó un estudio genético. Resultados: Se analizó un total de 387 pacientes con una mediana de edad al diagnóstico de 39 años; 113 (29%) eran portadores de VPs en genes de susceptibilidad a CM: BRCA1 (79%), BRCA2(15%), y otros (6%: ATM, BRIP1, PALB2, PTEN, RAD51C y TP53). Los portadores de VPs eran más jóvenes al diagnóstico de CM (37 vs. 40 años, p=0.004). Conclusiones: Existe una alta prevalencia de VPs en pacientes mexicanos con CMTN y la mayoría se encuentra en genes BRCA. La realización de pruebas genéticas se puede optimizar mediante la adopción de un proceso escalonado para la detección de VPs.

[Surgical-pathologic correlation to assess the margin status in wide local excision for early-stages breast cancer]. / Correlación quirúrgico-patológica para evaluar el estado de los bordes en las escisiones locales amplias de cáncer mamario en etapas clínicas tempranas.

OBJETIVE: To know the surgical-pathologic correlation to assess the state of the edges in wide local excisions of breast cancer in clinical stages. MATERIAL AND METHODS: retrospective and descriptive study, conducted in Breast Tumors Unit from Oncology Service of the General Hospital of Mexico, in the period from January 2009 to December 2011, with follow-up in December2012. Were included patients with breast cancer in early clinical stages, subject wide local excisions histopalogic report of a second surgery. RESULTS: From wide local excisions, 119 (28.5%) were due to breast cancer and included. Positive margins after initial surgery were diagnosed in 63 patients (52.9%). The residual tumor found in the second surgery was 39.7%. The variables associated with the presence of positive margins and statistically significant (p≤ 0.05) were: multicentricity, tumor size clinical and pathological, histological subtypes, and tumor grade. The age and clinical stage were not statistically significant. The variables associated with the presence of residual tumor and are statistical relevance (p≤ 0.05) were clinical stage, tumor size, clinical and pathological, histological variant and histological grade. Age and multicentricity were not associated with the presence of residual tumor. CONCLUSION: Although each case must be individualized, these results demonstrate the analyzed factors must be taken into account during the planning of breast conservative procedures, and despite an histopalogical report of margin after an initial surgery, even seconds procedures can be performed to conserve the organ.