Cytogenetics and Molecular Diagnostics

Section edited by Karoly Szuhai

This section covers cytogenetics, molecular genetics and new technological advances. We encourage submission of studies on alterations at the chromosomal and DNA levels in disease prognosis.

  1. Technical advance

    Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture micro-dissection and cycling temperature capillary electrophoresis

    The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mit...

    Paulo Refinetti, Christian Arstad, William G. Thilly, Stephan Morgenthaler and Per Olaf Ekstrøm

    BMC Clinical Pathology 2017 17:6

    Published on: 8 April 2017

  2. Research article

    Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer

    Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha, PIK3CA, is one of the most frequently mutated genes in breast cancer, and the mutation status of PIK3CA has clinical relevance related to r...

    Ruza Arsenic, Denise Treue, Annika Lehmann, Michael Hummel, Manfred Dietel, Carsten Denkert and Jan Budczies

    BMC Clinical Pathology 2015 15:20

    Published on: 18 November 2015

  3. Technical advance

    A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing

    Germline mutations in BRCA1 or BRCA2 lead to a high lifetime probability of developing ovarian or breast cancer. These genes can also be involved in the development of non-hereditary tumours as somatic BRCA1/2 pa...

    Gillian Ellison, Shuwen Huang, Hedley Carr, Andrew Wallace, Miika Ahdesmaki, Sanjeev Bhaskar and John Mills

    BMC Clinical Pathology 2015 15:5

    Published on: 24 March 2015