Challenges in genetic counseling in hereditary cancer syndromes in a Mexican oncologic center

Background: In Mexico, hereditary cancer is underdiagnosed, medical geneticists give genetic counseling, but the access is limited due to the socio-economic characteristics of the population. The CUCC (Centro Universitario Contra el Cáncer) Early Cancer Detection Clinic (CECIL) created a model in which patients without cancer are enrolled in a prevention cancer screening program. Methods: From 2016 to 2021, 3014 patients were enrolled in the prevention program. Patients were evaluated with a hereditary cancer risk survey before a consultation. Those with at least one familial hereditary risk positive answer were assessed in a consultation. We also included patients with cancer diagnoses referred by oncologists of the CUCC. Those who fulfill hereditary cancer criteria were referred for genetic testing. Results: A total of 1119 subjects were evaluated. Of these, 248 (21%) were candidates for genetic testing, only 149 (60%) could be analyzed, 52 probands (59%) and 32 relatives (51%) had at least one variant. Among the probands: 33 had HBOC (Hereditary Breast and Ovarian Cancer syndrome), 7 had Lynch, 1 LFS (Li-Fraumeni syndrome), 1 LFLS (Li-Fraumeni like syndrome), 1 FAP (Familial Adenomatous Polyposis), and 9 had benign variants. In the relative\u27s group: 17 had Lynch, 10 HBOC, 1 LFS, and 4 FAP. To date, 3 patients under surveillance had an in situlesions (1 endometrial and two colon), and 3 more had a premalignant colon lesion, one in the not tested group. To achieve the genetic test cost for the probands, 50% had partial sponsors, 31% paid for their tests, research projects were supported by 13%, and 4.5% were donations. Among relatives, 94.4% paid for the tests, and 5.5% were supported by research. All relatives were tested using an in-house low-cost test. Conclusion: The model\u27s success made awareness of these diseases, leading last year to the formation of a state detection program, including all public and private health institutions attending to patients with cancer, these patients are referred to CECIL. We found an effective way to find support low-cost genetic testing via foundations

SARS-CoV-2 Neutralizing Antibodies in Mexican Population: A Five Vaccine Comparison

Neutralizing antibodies (NAs) are key immunological markers and are part of the humoral response of the adaptive immune system. NA assays determine the presence of functional antibodies to prevent SARS-CoV-2 infection. We performed a real-world evidence study to detect NAs that confer protection against SARS-CoV-2 after the application of five vaccines (Pfizer/BioNTech, AstraZeneca, Sinovac, Moderna, and CanSino) in the Mexican population. Side effects of COVID-19 vaccines and clinical and demographic factors associated with low immunogenicity were also evaluated. A total of 242 SARS-CoV-2-vaccinated subjects were recruited. Pfizer/BioNTech and Moderna proved the highest percentage of inhibition in a mono-vaccine scheme. Muscular pain, headache, and fatigue were the most common adverse events. None of the patients reported severe adverse events. We found an estimated contagion-free time of 207 (IQR: 182–231) and 187 (IQR: 184–189) days for Pfizer/BioNTech and CanSino in 12 cases in each group. On the basis of our results, we consider that the emerging vaccination strategy in Mexico is effective and safe

microRNA-34a and Long Non-Coding RNA MALAT1 Is Associated With HPV Status and Viral Load In Premalignant Cervical Lesions

Background: Cervical cancer (CC) is one of the most common gynecological malignancies in the world, and human papillomavirus (HPV) infection is the most important risk factor for their development. Although there are methods for the early detection of CC and HPV infection, but there are not highly sensitive and specific, for it´s necessary to investigate alternatives such as miR-34a and MALAT1, implicated in the pathogenesis of CC. The objective was to evaluate the association of HPV status, viral load, the presence of coinfections, and the grade of CC precursor lesions with miR-34a and MALAT1 expression in patients with high and low-grade cervical lesions (CL) and patients without CL but HPV+. Methods: Liquid-based cervical cytology (LBCC) specimens were obtained from 67 women diagnosed with low and high-grade CL, as well as LBCC HPV+, from which DNA and RNA were extracted. From DNA we genotyped and quantified the viral load for HPV 16, 18, and 51. From RNA, we performed a retrotranscription and evaluated the expression of MALAT1 (n=67) and miR-34a (n=29), all using a droplet-digital PCR assay. Statistical analysis was performed with SPSS 27.0 software using U Mann-Whitney and Kruskal-Wallis tests. Results: We identified a statistically significant association between the under-expression of miR-34a, HPV+ status (p=0.010), coinfections (p=0.030), low (p =0.042), and high viral load (p=0.014), but not with the lesion grade. Also, MALAT1 overexpression was associated with HPV+ status (p=0.008) and high viral load (p =0.027), but not with co-infections or the grade of CC precursor lesions. Conclusions: The expression of MALAT1 and miR-34a are associated with HPV status and viral load, but not with the grade of CC precursor lesions