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Familial cancer syndromes 

Familial cancer syndromes
Familial cancer syndromes

Carrie L. Snyder

, Heather Hampel

, and Henry T. Lynch


March 29, 2019: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.


Includes a new section on next generation sequencing in cancer genetic testing

Includes a new section on targeted therapies; notably immunotherapy with anti-PD1 and PARP inhibitors

Includes a new section on cascade testing in at risk family members

Updated on 25 May 2017. The previous version of this content can be found here.
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date: 13 July 2020

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.

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