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Inherited cancer syndromes in 220 Italian ovarian cancer patients

  • I. Carnevali
    Correspondence
    Corresponding author at: Department of Pathology, Ospedale di Circolo, ASST Settelaghi, Via O. Rossi 9, 21100 Varese, Italy.
    Affiliations
    Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy

    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy
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  • C. Riva
    Affiliations
    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Department of Medicine and Surgery, University of Insubria, Varese, Italy
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  • A.M. Chiaravalli
    Affiliations
    Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy

    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy
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  • N. Sahnane
    Affiliations
    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Department of Medicine and Surgery, University of Insubria, Varese, Italy
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  • E. Di Lauro
    Affiliations
    Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy
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  • A. Viel
    Affiliations
    Unit of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, PN, Italy
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  • F. Rovera
    Affiliations
    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Breast Unit Ospedale di Circolo, ASST Settelaghi, Varese, Italy
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  • G. Formenti
    Affiliations
    Department of Obstetrics and Gynaecology, Ospedale F.Del Ponte, ASST Settelaghi, Varese, Italy
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  • F. Ghezzi
    Affiliations
    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Department of Obstetrics and Gynaecology, Ospedale F.Del Ponte, ASST Settelaghi, Varese, Italy
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  • F. Sessa
    Affiliations
    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy

    Department of Medicine and Surgery, University of Insubria, Varese, Italy
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  • M.G. Tibiletti
    Affiliations
    Department of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Via O. Rossi 9, 21100 Varese, Italy

    Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, Varese, Italy
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      Highlights

      • Ovarian cancer prevention include identification not only of BRCA1 and BRCA2 carriers but also of MMR gene carriers.
      • Combination of germline and somatic analyses is an efficient strategy for hereditary ovarian cancer identification.
      • The age of ovarian cancer onset in LS patients suggest a revision of prevention guidelines.

      Abstract

      Background

      A subsets of ovarian carcinomas (OCs) are related to inherited conditions including Hereditary Breast and Ovarian Cancers (HBOC) and Lynch Syndrome (LS). The identification of inherited conditions using genetic testing might be a strategic model for cancer prevention that include benefits for the ovarian cancer patients and for their family members.

      Methods

      We describe a retrospective Italian experience for the identification of inherited conditions in 232 patients affected by OCs using both somatic and germline analyses.

      Results

      Immunohistochemical and microsatellite analyses performed on OCs identified 20 out of 101 MMR defective cancers and 15 of these were from patients carriers of the MMR germline pathogenetic variants.
      BRCA1 and BRCA2 testing offered to 198 OC patients revealed 67 (34%) pathogenetic variant carriers of BRCA1/2 genes. Interestingly LS patients revealed a mean age of OC onset of 45.4 years, which was significantly lower than the mean age of OCs onset of HBOC patients.

      Conclusions

      Somatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.

      Keywords

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