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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. EGFR and HER2 overexpression has been reported to play important roles in colorectal cancer (CRC) development and metastasis. Ovarian metastasis is rare yet is one of the most malignant metastases of CRC, but ...

    Authors: Ji-Lin Li, Shu-Han Lin, Hong-Qiu Chen, Li-Sheng Liang, Xian-Wei Mo, Hao Lai, Jie Zhang, Jing Xu, Bing-Qian Gao, Yan Feng and Yuan Lin

    Citation: BMC Clinical Pathology 2019 19:3

    Content type: Research article

    Published on:

  2. The overexpression of HER2 is associated with worse prognosis of breast cancer which responds favourably to anti-HER2 therapy. The objective of this study was to determine the frequency of HER2 and its associa...

    Authors: Nguiessan Alphonse Aman, Brahima Doukoure, Kouadio Donatien Koffi, Baumaney Sylvanus Koui, Zie Cheick Traore, Mohamed Kouyate and Ahoua Benjamin Effi

    Citation: BMC Clinical Pathology 2019 19:1

    Content type: Research article

    Published on:

  3. Advanced gastric cancers are usually associated with incurable conditions for which systemic treatments are indicated. Recent studies suggest that circulating cell-free plasma DNA of tumour origin (tDNA) is a ...

    Authors: Sávia Raquel Costa Normando, Pamela de Oliveira Delgado, Ana Katherine Soares Barbosa Rodrigues, Waldec Jorge David Filho, Fernando Luiz Affonso Fonseca, Felipe José Silva Melo Cruz and Auro del Giglio

    Citation: BMC Clinical Pathology 2018 18:12

    Content type: Research article

    Published on:

  4. 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

    Content type: Technical advance

    Published on:

  5. 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

    Content type: Research article

    Published on:

  6. 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

    Content type: Technical advance

    Published on:

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