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BMC Clinical Pathology

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. Content type: Technical advance

    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...

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

    Citation: BMC Clinical Pathology 2017 17:6

    Published on:

  2. Content type: Research article

    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...

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

    Citation: BMC Clinical Pathology 2015 15:20

    Published on:

  3. Content type: Technical advance

    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...

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

    Citation: BMC Clinical Pathology 2015 15:5

    Published on: