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Clinical Genetics for the Gynecologist

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Abstract

Family history is a well-recognized risk factor for the development of breast and gynecologic cancer. It is thought that hereditary cases account for 5–10% of all cancers. A number of well-established, highly penetrant syndromes such as Lynch syndrome and hereditary breast and ovarian cancer syndrome account for the vast majority of the hereditary cases. A number of other moderate-risk genes associated with familial syndromes have also been described. The identification of these additional genes has greatly expanded testing options; however, less is known about risk and management for these more recently described genes. This chapter describes the hereditary syndromes associated with breast and gynecologic malignancies and provides risk-reduction recommendations when available. The criteria for genetic testing, methods of genetic testing, and application of results are reviewed.

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Correspondence to Doreen M. Agnese .

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Grignol, V.P., Agnese, D.M. (2018). Clinical Genetics for the Gynecologist. In: Knaus, J., Jachtorowycz, M., Adajar, A., Tam, T. (eds) Ambulatory Gynecology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7641-6_19

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  • DOI: https://doi.org/10.1007/978-1-4939-7641-6_19

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  • Publisher Name: Springer, New York, NY

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  • Online ISBN: 978-1-4939-7641-6

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