Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women.

Purpose: Women with pathogenic variants (PVs) in breast cancer (BC) and ovarian cancer (OC) associated genes are candidates for cancer risk-reducing strategies. Limited information is available regarding risk-reducing surgeries (RRS) among Hispanics. The aim of this study was to describe the uptake of RRS in an international real-world experience of Hispanic women referred for genetic cancer risk assessment (GCRA) and to identify factors affecting uptake.

Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients.

Background: A high frequency of primary central nervous system (CNS) sarcomas was observed in Peru. This article describes the clinical characteristics, biological characteristics, and outcome of 70 pediatric patients.

Methods: Data from 70 pediatric patients with primary CNS sarcomas diagnosed between January 2005 and June 2018 were analyzed.

[Mutations in the BCR-ABL1 gene in a peruvian patient with acute lymphoblastic leukemia resistant to therapy].

Context: The fusion gene BCR-ABL1 is present in at least the fourth part of B-cell acute lymphoblastic leukemia adult cases. Patients with this fusion gene are candidates to tyrosine kinase inhibitors treatment, and the response to this therapy can be measure by quantification of BCR-ABL1 transcripts. Some patients relapse because the presence of mutations in the tyrosine kinase domain of BCR-ABL1.

[Microsatellite instability in patients with diagnostic of colorectal cancer].

Objective: To determine the presence of microsatellite instability in patients with colorectal cancer using the molecular panel Bethesda and discuss its significance in patients with suspected hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome.

Materials And Methods: We worked with samples of peripheral blood and tumor tissue of 28 patients diagnosed with colorectal cancer referred to the Laboratory of Molecular Biology of the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, with suspected of Lynch syndrome. DNA was extracted using kits of nucleic acid extraction of peripheral blood and paraffin-embedded tumor tissue.

Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort.

Background: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, frequent absence of family history and low number of CAG repeats. The clinical and molecular features of late onset HD is still understudied in Latin America.