The HapMap Project and low-penetrance cancer susceptibility alleles

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. © 2010 Springer Science+Business Media, LLC.