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Worldwide CDH1 Germline Mutation Frequency

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Hereditary Gastric and Breast Cancer Syndrome

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Abstract

E-cadherin (CDH1 gene) germline mutations are associated with the development of the autosomal cancer syndrome known as hereditary diffuse gastric cancer. Different patterns of CDH1 germline mutations have been described as truncating, deletion, insertion, Splice-site, non-sense, silence, and at last, missense alterations. The frequency of the different E-cadherin germline mutations in countries with different incidence rates for gastric carcinoma has been reported as extremely variable. In particular, the missense variant frequency seems to be higher in high-incidence areas of gastric cancer, when compared with non-missense mutations. In this chapter, we described the worldwide frequency of CDH1 germline mutations in gastric cancers coming from different geographical areas.

Parts of this chapter are based on the open access publication Corso, G.; Corso, F.; Bellerba, F.; Carneiro, P.; Seixas, S.; Cioffi, A.; La Vecchia, C.; Magnoni, F.; Bonanni, B.; Veronesi, P.; et al. Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review. Cancers 2021, 13, 1269. https://doi.org/10.3390/cancers13061269

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Authors and Affiliations

  1. Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy

    Giulia Massari, Valentina Tagliaferri & Giovanni Corso

  2. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy

    Giovanni Corso

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  1. Giulia Massari
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  2. Valentina Tagliaferri
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  3. Giovanni Corso
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Correspondence to Giovanni Corso .

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  1. European Institute of Oncology, University of Milan, Milan, Italy

    Giovanni Corso

  2. European Institute of Oncology, University of Milan, Milan, Italy

    Paolo Veronesi

  3. University of Siena, Siena, Italy

    Franco Roviello

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Massari, G., Tagliaferri, V., Corso, G. (2023). Worldwide CDH1 Germline Mutation Frequency. In: Corso, G., Veronesi, P., Roviello, F. (eds) Hereditary Gastric and Breast Cancer Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-031-21317-5_2

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