Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.

Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical entity characterized by an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based on the identification of heterozygous germinal variants in HBOC susceptibility genes. However, it has recently been described that constitutional mosaic variants can contribute to the aetiology of HBOC. In constitutional mosaicism, individuals have at least two genotypically distinct populations of cells that arise from an early post-zygote event. The mutational event occurs early enough in development to affect several tissues. It is detected in germinal genetic studies as low variant allele frequency (VAF) variants (<30%) that are generally overlooked during the prioritization process. Constitutional mosaic variants can affect both somatic and germinal cells, and thus can be passed to the offspring and have important consequences for genetic counselling. In this work, we report the c.9648+1G>A mosaic variant in the BRCA2 gene and propose a diagnostic algorithm to deal with potential mosaic findings identified by Next Generation Sequencing (NGS).

Herramientas para la evaluación de las competencias profesionales / Toolkit for professional competencies assessment of Medicine Laboratory specialists

No disponible

Recertificación de los especialistas en Análisis Clínicos y Bioquímica Clínica / Re-accreditation of specialists in Clinical Analysis and Clinical Biochemistry

La recertificación consiste en certificar la renovación de las competencias específicas de los profesionales titulados referidos en la ley de ordenación de las profesiones sanitarias. El objetivo es certificar que el profesional esté cualificado para realizar un ejercicio profesional con el fin de garantizar una asistencia sanitaria de calidad. Las organizaciones colegiales profesionales y las sociedades científicas deben contribuir a facilitar el camino del desarrollo profesional y a la Administración sanitaria le corresponde ser valedora y garante en todo el proceso (AU)

Re-accreditation consists in certifying the renewal of specific competencies of qualified professionals as mentioned in the health profession management law. The objective is to certify that the professional is qualified to perform a professional exercise in order to guarantee quality healthcare. The professional bodies and scientific societies should contribute by facilitating the continuing professional development, and the Health Administration should be responsible for guaranteeing the whole process (AU)