The Inheritance of p53

Grochola, Lukasz F., Zeron-Medina, Jorge, Repapi, Emmanouela, Finlayson, Alexander E., Cai, Ying, Atwal, Gurinder Singh, Bond, Gareth L. (2013) The Inheritance of p53. In: p53 in the Clinics. Springer New York, pp. 25-46. ISBN 978-1-4614-3675-1

DOI: 10.1007/978-1-4614-3676-8_2


The p53 pathway constitutes a major cellular gene network that is crucial in directing the suppression of cancer formation, mediating the response to commonly used cancer therapies, as well as the regulation of germline maintenance, fertility, and reproduction. It has been demonstrated that various cancer predisposition syndromes are caused by low-frequency, highly penetrant inherited mutations in the p53 network, the knowledge of which is already positively affecting patient survival. Mounting evidence from studies utilizing human material, patient cohorts, and mouse models suggests that higher frequency, lesser penetrant genetic variants can also affect p53 signaling, resulting in differences in cancer risk, prognosis, response to therapies, and/or natural selection. Indeed, multiple genes in the p53 network have been shown to harbor functional single nucleotide polymorphisms (SNPs). Comprehensive analyses of two SNPs have demonstrated that their effects on cancer can be modified by factors such as gender, estrogen, and other p53 pathway SNPs. Together these insights suggest that genetic variants in the p53 network could present an excellent opportunity to further define individuals in their abilities to react to stress, suppress tumor formation, and respond to therapies.

Item Type: Book Section
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function > genes: types > p53
CSHL Authors:
Communities: CSHL labs > Atwal lab
Depositing User: Matt Covey
Date: 2013
Date Deposited: 30 Jan 2015 15:32
Last Modified: 30 Jan 2015 15:32

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