Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ∼5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment Oliver et al. Latin American HBOC Study of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.

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Background: Current evidence highlights the potential role of tumorinfiltrating lymphocytes (TILS) as a prognostic factor in many types of tumors. The TILs (CD4 and CD8) are being studied with different methods such as immunohistochemistry and optical microscopy. The main objective of our work is to identify TILS in patients with NSCLC, classified as present or absent, and its relation to progression free survival (PFS). Method: Retrospective and analytical study of Instituto Oncológico de Córdoba, from 2004 to 2019. 187 patients with stage IIIB and IV NSCLC were analyzed. TILS are descriptively classified as present or absent. Survival curve was calculated using the Kaplan-Meier method. Results: 63% of patients had adenocarcinoma and 37% squamous cell carcinoma. 72% were men. 82% were smokers. 65% of patients with squamous histology and % 58 with adenocarcinoma, showed TILS. Patients with adenocarcinoma with TILS present had higher PFS 13.3 months, compared to patients with absent, 8.8 months. These differences were statistically significant (PFS: p¼0.004). The patients with squamous cell carcinoma with TILS had 10.8 months PFS. Those who had infiltrated absent had a PFS of 5.6 months. These differences were also statistically significant (PFS: p ¼ 0.001). Conclusion: Our study shows that patients whose pathological samples presented inflammatory infiltrate had higher PFS. The presence of TILS could be used as an important prognostic factor in this patient population.