BackgroundBreast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations.MethodsWe performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation‐dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer.ResultsIn this series, we found four pathogenic mutations, three previously reported (BRCA1: c.302‐1G>C and c.815_824dup10; BRCA2: c.5946delT) and a duplication of adenines in exon 15 in BRCA1 gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants.ConclusionThis is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.

Agriculture continues to rank as one of the most dangerous industries in the nation. Media coverage is an important tool for sharing farm safety information, improving knowledge and changing behaviors. Despite this importance, surprisingly little research has focused on agricultural media coverage and the forces that influence journalists' decisions about when and how to cover safety stories. This study uses content analysis methods to examine the nature of farm safety issues, accidents, and topics that appear in mainstream news, agricultural media, and blogs. Researchers also interviewed journalists and bloggers to better understand their motivations, barriers, and information needs when covering safety topics. Findings indicate there is a need to expand safety reporting beyond accident coverage and to better engage bloggers in farm safety topics. Journalists emphasized their strong moral obligation to cover farm safety and desire to include more preventative information and actionable advice in stories. They also described their struggle to find local angles other than accident reports and to find timely hooks for farm safety features outside of harvest and planting seasons. Journalists wanted more research-based studies, stories, and relationships with organizational experts connected to safety and health issues. Few bloggers were engaged with farm safety topics, as some preferred to focus on more consumer-oriented information or felt they did not know enough about farm safety to write about it. Recommendations are included for journalists and organizations working on farm safety related topics and campaigns.

Background Circulating free DNA (cfDNA) is becoming an important tool in diagnosis and prognosis in several types of cancer. In this study we evaluated the association between cfDNA concentrations in peripheral blood with tumoral features of non-metastatic breast cancer patients. Methods cfDNA was extracted from plasma of peripheral blood of patients with non-metastatic breast cancer and healthy controls. In patients, blood samples were collected before and after surgery, while in controls samples were collected after their results of breast cancer screening. Detection of copy number of PUM1 and RNaseP genes were performed in a QuantStudio® 3D Digital PCR System and quantification was obtained with QuantStudio® 3D AnalysisSuite™ Cloud Software. Raw values were compared among the different clinicopathologic features. Results In total 26 patients and 25 controls were included. There were significant differences between controls and patients for levels counts of PUM1 and RNaseP genes (p<0.0001 in both cases). In patients, median concentrations before and after surgery for PUM1 were 10.6 copies/uL (range: 2.2-16.3) vs. 7.6 copies/uL (range: 1.3-12.8), respectively (P=0.04) and for RNaseP were 6.6 copies/uL (range: 0.9-20.0) vs. 5.3 copies/uL (range: 0.5-16.0), respectively (P=0.103). Hormonal tumors produced more cfDNA in terms of RNaseP at diagnosis (7.9 vs. 5.6, P=0.049). When we compared patients according to their hormonal status with controls, RNaseP was able to identified positive hormonal receptors patients (P<0.0001). There were no significant differences between other clinicopathologic features. There was a significant decrease after surgery of RNaseP levels in node negative tumors (P=0.049) and PUM1 levels in >10mm tumors (P=0.041). Conclusions Our results suggest that PUM1 is a better diagnostic biomarker for non-metastatic breast cancer because RNaseP loss sensitivity in negative hormone receptor cases. Hormonal tumors produced more circulating free DNA. RNaseP could be used to monitor node negative patients and PUM1 to patients with >10mm tumors. Citation Format: Jhajaira M. Araujo, Jaime Ponce, Alexis Murillo, Pamela Rebaza, Pierina Danos, Alfredo Aguilar, Ricardo Fujita, Henry L. Gomez, Joseph A. Pinto, Jose Buleje. Evaluation of circulating free DNA in non-metastatic breast cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 1585.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

El trabajo que se presenta resulta de vital importancia ya que además de elevar la participación de los niños en las actividades recreativas también desarrolla habilidades en niños de 8 y 10 años. Estas edades se consideran determinantes para la formación del futuro baloncestista, ya que a partir de aquí comienza el proceso de elección para formar parte del alto rendimiento por lo que se considera necesario perfeccionar el proceso de identificación de posibles talentos.