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.

Caso Clínico: Tuberculosis Laríngea: Neoplasia apararente / Clinical cases: tuberculosis laryngeal

Se describe el caso de un paciente de 48 años con compromiso por tuberculosis a nivel de laringe,las meninges y los pulmones, en quie se sospechó inicialmente carcinoma. Las lesiones laríngeas fueron consideradas inicialmente como alntamente sospechosas de cáancer, más que de un proceso infeccioso crónico.Después del diagnóstico, el paciente recibió tratamiento tetraconjugado anti- por un periodo estimado de 6 semanas. Se realiza una presentación detallada del cuadro clínico, de los hallazgos patológicos y microbiológicos, de las complicaciones presentadas durante la hospitalización, como neumonía,hiponatremia y obstrucción de la vía aérea superior.Adicionalmente, se exploran los posibles diagnósticos diferenciales y los diferentes tratamientos empleados en esta entidad. A pesar de la presentación relativamente infrecuente de estos casos,la tuberculosis laríngea hace parte de las posibilidades diagnósticas durante el estudio de las masas laríngeas.