Abstract
Previous chapters in this book (Chaps. 3 and 5–13) describe hereditary cancer syndromes that confer a substantial increase in risk for developing a particular malignancy. Such syndromes are considered to be Mendelian diseases, as the pattern of affected patients within an extended family closely follows the pattern of transmission of genes in a diploid organism as understood by Mendel’s laws of inheritance. DNA variants – or mutations – that underlie Mendelian diseases or traits are highly penetrant. That is, by inheriting the disease mutation or allele, an individual has a very high chance of developing the disease in question.
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Choy, E., Altshuler, D. (2010). The HapMap Project and Low-Penetrance Cancer Susceptibility Alleles. In: Chung, D., Haber, D. (eds) Principles of Clinical Cancer Genetics. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-93846-2_14
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