Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.

Background Some breast cancer cases are related to inherited mutations, and this is the reason why early mutation screening is emerging as an area of focus for cost-effective care. However, breast cancer-related mutations vary according to race, ethnicity, geographic origin, and healthcare access. Surveillance for familial breast cancer is not performed routinely in Colombia. Our main aim in this study was to describe a cohort of breast cancer patients, carrying founder breast cancer gene (BRCA) mutations, which were followed up for up to 10 years (2010-2019) in Neiva, Colombia. Methods We performed a retrospective description from an outpatient care center in Huila, Colombia, a region with high breast cancer rates. This study included patients with both a breast cancer diagnosis and an incident genetic mutation for breast cancer (detected during a breast cancer consultation). We captured information from patient medical records. Descriptive analyses were performed. Results A total of 105 patients met the study's inclusion criteria and were included patients with the BRCA1 mutation and three with BRCA2 mutations. They had a median age of 45 years (IQR, 36 to 51 years). Relatives with a breast cancer history were found in 74 carriers (70.5%). Most patients had a report of Breast Imaging-Reporting and Data System (BIRADS) ≥ 4. A TNM (tumor, node, metastasis) changed reclassification was observed in anatomical vs. prognostic classification. Median follow-up was of 74 months (IQR, 44 to 130), overall observed mortality was 22.9%, and specific mortality was 19.1%. Conclusion Women with breast cancer who carry a mutation related to breast cancer are usually younger than age 50 at diagnosis. Developing strategies and specific policies for this population is needed, and a prevalent BRCA1 c.3331_3334delCAAG mutation could be used as a cost-effective first approach. Among these patients, a risk-increased reclassification was observed.

Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.

OBJECTIVES: Previous studies showed that noggin gene (NOG) sequence alterations, as well as epigenetic factors, could influence mandibular development. The aim of this study was to analyze clinical characteristics, NOG gene sequences, and promoter methylation sites in patients with mandibular micrognathism. MATERIALS AND METHODS: A total of 35 individuals of five Colombian families were subject to clinical and cephalometric analysis for mandibular micrognathism. One nonaffected individual of each family was included as a control. DNA was isolated from whole blood sample from all individuals by salting out method. Nine NOG gene fragments were amplified by polymerase chain reaction (PCR) and sequenced. Identification of CpG islands for methylation analysis at the NOG gene promoter was performed by MSP-PCR kit (Qiagen R). STATISTICAL ANALYSIS: A descriptive statistical analysis was carried out evaluating the presence or absence of genetics variants and the methylation sites in the NOG gene. RESULTS: NOG sequence results of affected individuals with mandibular micrognathism for one of the families studied demonstrated that they were heterozygous for 672 C/A (new mutation). For a second family, individuals were heterozygous for 567 G/C (single nucleotide polymorphism [SNP] RS116716909). For DNA analyzed from all patients studied, no methylations were observed at the NOG gene promoter region. CONCLUSION: Our results suggested that 672 C/A and 567 G/C variants could be involved in the presence of mandibular micrognathism. Moreover, lack of methylation sites at the NOG gene promoter region of all individuals studied suggests possibly other epigenetic factors could modulate mandibular growth. The search of genetic variants related with mandibular micrognathism will allow to predict in an integral way the development patterns of the patients and therefore establish a better clinical treatment.

Modificaciones anatómicas del ventrículo izquierdo en deportistas de canotaje de alto rendimiento / Anatomical modifications of the left ventricle in high performance canoeing athletes

Introducción: La adaptación del corazón humano al acondicionamiento físico ha sido un tema de interés médico-científico, pues el remodelado cardíaco que comprende variación en el tamaño, forma, grosor de las paredes, y masa ventricular responde al tipo de actividad física. Objetivo: Determinar las modificaciones anatómicas del ventrículo izquierdo en kayacistas y canoístas femeninos y masculinos de alto rendimiento. Material y Métodos: Se realizó un estudio prospectivo, descriptivo de corte transversal en deportistas de canotaje de alto rendimiento que acudieron al Instituto de Medicina del Deporte durante la preparación especial con vistas a participar en los Juegos Olímpicos de Rio de Janeiro 2016. La muestra se conformó con 20 deportistas que cumplieron los criterios de inclusión establecidos, se recogieron los resultados de los diferentes parámetros ecocardiográficos que fueron estudiados para comprobar si existía modificación anatómica del ventrículo izquierdo (MAVI). Se empleó la estadística descriptiva e inferencial. Resultados: Edad promedio 20,9 ± 1,18 años, predominio del sexo masculino (65 por ciento); kayak (60 por ciento) y velocidad (55 por ciento) fueron las disciplinas deportivas y modalidades competitivas predominantes , fue frecuente la hipertrofia concéntrica en ambos sexos (65 por ciento), la edad deportiva de igual o menos de 10 años (60 por ciento), espesor relativo de la pared aumentado (65 por ciento), el índice AKS mayor se encontró en la hipertrofia excéntrica (1,3 por ciento) y el porciento de grasa predominante fue en la hipertrofia concéntrica para un (7,9 por ciento). Conclusiones: El espesor relativo de la pared ventricular tuvo una relación significativa con la modalidad competitiva(AU)

Introduction: The adaptation of the human heart to physical conditioning has been a medical and scientific topic of interest where cardiac remodeling involving changes in size, form, thickness of the walls and ventricular mass responds to the type of physical activity. Objective: To determine the anatomical modifications of the left ventricle in high performance male and female canoeing and kayaking athletes. Material and methods: A prospective, descriptive, cross-sectional study was conducted in high performance canoeing athletes that attended the Instituto de Medicina del Deporte during the special training in view of the preparation for the Olympic Games in Rio de Janeiro, 2016. The sample was composed of 20 athletes that fulfilled the established inclusion criteria. The results of the different echocardiographic parameters were collected and analyzed in order to check whether there were anatomical modifications of the left ventricle (AMLV). Differential and descriptive statistics were used. Results: The average age was 20, 9 ± 1, 18 years, the male sex predominated in the study (65 percent), kayak (60 percent) and velocity (55 percent) were the predominant sports disciplines and competitive modalities, respectively. Concentric hypertrophy in both sexes (65 percent), sporting age of 10 years or less (60 percent), and increase in relative wall thickness (65 percent) were frequent; the highest AKS index was found in eccentric hypertrophy (1,3 percent) and predominant fat percentage was observed in concentric hypertrophy (7,9 percent). Conclusions: The relative thickness of the ventricular wall had a significant relationship with the competitive modalities(AU)

Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.

BACKGROUND: Inherited mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2) confer high risks of breast and ovarian cancer. In Colombian Hispanic families, four common BRCA1/2 founder mutations have previously been identified. Because nothing is known about the contribution of BRCA1/2 germline mutations to early-onset and hereditary breast and/or ovarian cancer in Afro-Colombians, we conducted the first study on 60 patients with early-onset and familial breast cancer in this population. MATERIALS AND METHODS: Screening for the four Colombian founder mutations BRCA1/c.3331_3334delCAAG, BRCA1/c.5123C>A, BRCA2/c.2806_2809delAAAC, and BRCA2/c.1763_1766delATAA was performed using mismatch polymerase chain reaction (PCR) analysis, PCR-based restriction fragment length polymorphism analysis, and qualitative real-time PCR. Mutations were confirmed by direct DNA sequencing. RESULTS: The BRCA1 founder mutation c.5123C>A was identified in one family with breast and ovarian cancer (1/60, 1.7%). Three women were diagnosed with breast cancer, including one with bilateral disease, at the ages of 30, 30/33, and 52 years, and one woman was diagnosed with ovarian cancer at the age of 60 years. CONCLUSION: Our data showed a low prevalence of the BRCA1/2 founder mutations in Colombians of African descent, implying that these mutations should not be recommended for genetic screening programs in the Afro-Colombian population. IMPLICATIONS FOR PRACTICE: Risk reduction intervention programs are needed for women who are found to carry a BRCA1/2 mutation, as is the implementation of prevention programs for patients with inherited breast cancer, to reduce the burden of inherited diseases. With the aim of reducing racial disparities in breast cancer prevention, this study focused on genetic testing and treatment for patients in a minority population with BRCA1/2 mutations.

Análisis mutacional del gen MSX1 en pacientes con FLPNS e hipodoncia / Mutation analysis of MSX1 gene in patients with NSCLP and hypodontia

Introducción. La etiología de la hendidura labio-palatina es compleja e involucra factores genéticos y ambientales. Además de la hendidura, numerosos estudios han reportado la presencia de anomalías dentales en asociación con varias formas de hendidura labial,palatina o ambas; entre estas anomalías se ha encontrado la prevalencia de agenesia dental. La idea de que los mismos factores etiológicos que causan la formación de la hendidura afectan el desarrollo de la dentición, es apoyada por varios autores que proponen al genMSX1 como candidato para estos dos fenotipos. Una mutación nonsense (Ser104stop) en el exon 1 del gen MSX1 se encontró en una familia danesa, en la que unos miembros presentaban agenesia dental o hendidura palatina y otros presentaban las dos entidadesasociadas. A pesar de que se han realizado varios estudios sobre anomalías dentales en pacientes con hendidura labio-palatina y existen estudios que confirman a MSX1 como ungen candidato tanto para hipodoncia como para hendiduras oro-faciales, la interpretación de los resultados ha sido muy compleja. Objetivo. Determinar la presencia de la mutación reportada en pacientes colombianos con hendidura labio-palatina e hipodoncia. Materiales y métodos. Se analizaron 30 pacientes, 22 con hendidura labio-palatina y 8 sólo con hipodoncia, y 60 controles sanos, mediante exámenes clínicos y radiográficos; se les tomaron muestras de sangre por venopunción, se extrajo el ADN y se realizó amplificación por la técnica de PCR del exón 1. Posteriormente, se llevó a cabo un análisis de restricción. Resultados. De los pacientes con hendidura labio-palatina, 16 presentaron agenesias dentalesfuera y dentro del área de hendidura, la mayoría fueron laterales y premolares superiores. La mayoría de los pacientes con hipodoncia únicamente, presentaron ausencias de incisivos. Además, presentaron otras anomalías dentarias, como micrognatismo, dientes supernumerarios y prognatismo mandibular...

Introduction: The etiology of non-syndromic cleft lip palate is complex and involves genetic and environmental factors. Additional to the fissure itself, numerous studies have reported the presence of dental anomalies with various forms of cleft lip, cleft palate or both. The prevalence of dental agenesis has been found within these anomalies. The idea that the same etiology factors which cause the formation of the cleft affect the dental development is supported by various authors who propose the MSX1 gene to be the candidate for these two phenotypes. A nonsense mutation in the exon 1 of the MSX1 gene was found in a Danish family in which one of the members presented dental agenesis and/or cleft palate and others presented both entities. Although various studies have been associated reported with respect to dental anomalies in patients with nonsyndromic cleft lip palate and there are studies which confirm MSX1 as a candidate gene for hypodontia and orofacial fissures, the interpretation of the results has been very complex.Objective: To determine the presence of the mutation reported in Colombian patients with nonsyndromic cleft lip palate and hypodontia. Materials and methods: 30 patients, 22 with non-syndromic cleft lip palate and 8 with only hypodontia and 60 healthy patients were clinically and radiographically analyzed. Blood samples were taken through venopunction, the DNA was extracted and the PCR technique was utilized. Afterwords, the restriction analysiswas carried out...