How Much of Familial Breast Cancer Risk is Currently Explained by the Known Genes?

Marianna Terrasi, Gaspare Cucinella, Naomi Margarese, Eliana Gulotta, Leonardo Bruno, Francesca Di Gaudio, Viviana Bazan, Antonio Russo, Valentina Calo', Giuseppe Bronte, Laura La Paglia, Giuseppe Cicero, Tindara Franchina, Christian Rolfo Cervetto, Andrea Russo, Fabiola Di Piazza, Florinda Di Piazza, Riccardo Salvatore Rizzo

Research output: Contribution to journalArticle

Abstract

The need to answer the question “how much of the familial risk is currently explained by the known genes?” has increased ,and although BRCA1 and BRCA2 are considered the two major breast cancer (BC) susceptibility genes, they do not justify the entire percentage of all hereditary BC cases. The current consensus is that other BC predisposing genes could explain at least a portion of the remaining non-mutated familial cases, including not only other high- penetrance BC genes, but also moderate and low-penetrance genes. Considering these three different categories of genes, a gap of risk estimation in breast cancer can be observed. Moreover, different researchers tried to give significance to the mutations identified in terms of family management but the way in which these common variants contribute to cancer is still largely unknown.It has been recently proposed that the ‘rare variant hypothesis’, a model in which the summation of the effects of a series of low frequency gene variants, could justify a great portion of the inherited susceptibility to relatively common human diseases, such as breast cancer, independently by their way of acting. However, this hypothesis is still debated due the fact that there is little or no evidence about the fitness effects of common, disease-associated variants.
Original languageEnglish
Pages (from-to)38-43
Number of pages6
JournalCurrent Women's Health Reviews
Volume8
Publication statusPublished - 2012

All Science Journal Classification (ASJC) codes

  • Pharmacology, Toxicology and Pharmaceutics(all)

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