Familial cancer syndrome

Beth T. Harrison, Rodolfo Montironi, Antonio Lopez-Beltran, Michelle P. Elieff, Liang Cheng

Research output: Chapter in Book/Report/Conference proceedingChapter


Familial cancer syndromes arise from the inheritance of pathogenic germline mutations that increase the risk of cancer. Most commonly, these syndromes are associated with tumor suppressor genes according to Knudson's two-hit hypothesis, in which a mutation carrier develops cancer after somatic inactivation of the second allele. Well-known syndromes include retinoblastoma, hereditary breast and ovarian cancer syndrome (due to mutations in BRCA1 and BRCA2), Lynch syndrome (due to microsatellite instability), familial adenomatous polyposis, and multiple endocrine neoplasia types 1 and 2 among many others. Genetic alterations range from cytogenetically visible ones to submicroscopic ones requiring molecular detection methods. Genetic testing has rapidly evolved in recent years. Due to advancements in sequencing platforms, full gene sequencing is often employed as the first step in genetic testing, with its sensitivity enhanced by additional molecular approaches. It is predicted that implementation, validation, and interpretation of sequencing-based assays in the diagnosis of both sporadic and inherited diseases will fall increasingly into the realm of the clinical laboratorian. In this chapter, we review the clinical, pathologic, and molecular genetic features of the major hereditary cancer syndromes and the genetic testing strategies for each one.

Original languageEnglish (US)
Title of host publicationMolecular Genetic Pathology
Subtitle of host publicationSecond Edition
PublisherSpringer New York
Number of pages37
ISBN (Electronic)9781461448006
ISBN (Print)1461447992, 9781461447993
StatePublished - Mar 1 2013

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Harrison, B. T., Montironi, R., Lopez-Beltran, A., Elieff, M. P., & Cheng, L. (2013). Familial cancer syndrome. In Molecular Genetic Pathology: Second Edition (Vol. 9781461448006, pp. 607-643). Springer New York. https://doi.org/10.1007/978-1-4614-4800-6-23