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Genomics in Gynaecological Cancer: What the Clinician Needs to Know

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The availability and decreasing cost of molecular testing and acceptance of the value of molecular information in clinical care have changed the approach to classification, risk assessment and treatment of cancer. Gynaecological cancers include a diverse array of tumours arising at each site in the female genital tract. Diagnosis and classification are still based on histological appearance supported by immunohistochemistry but refined by the identification of specific genetic abnormalities or molecular subgroups.

In endometrial cancer four prognostically distinct groups of tumours are identified, characterized by the burden of tumour mutation and somatic copy number alterations. Pragmatic classification systems have been developed which can be used in routine practice with techniques which are widely available in diagnostic laboratories. This allows triage for familial cancer screening, and it is anticipated that clinical trials will demonstrate the benefit of personalised treatment strategies. In ovarian cancer, the identification of homologous recombinant deficiencies including germline and somatic pathogenic variants of BRCA1 and BRCA2 genes informs therapeutic decisions. Identification of specific mutations may permit targeted therapy. Some sarcomas have characteristic chromosomal rearrangements and in cervical and vulval cancers distinction is made between HPV associated and HPV independent tumours.


  • Molecular pathology
  • Gynaecological cancer
  • WHO classification
  • Homologous recombinant deficiency
  • Mismatch repair proteins

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  • DOI: 10.1007/978-3-030-94110-9_16
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Correspondence to Anthony Williams .

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Oniscu, A., Attygalle, A., Williams, A. (2022). Genomics in Gynaecological Cancer: What the Clinician Needs to Know. In: Singh, K., Gupta, B. (eds) Gynecological Oncology. Springer, Cham.

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  • Print ISBN: 978-3-030-94109-3

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