What is the role of genetics in the pathophysiology of cervical cancer?

Updated: Feb 12, 2019
  • Author: Cecelia H Boardman, MD; Chief Editor: Warner K Huh, MD  more...
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Genetic susceptibility to cervical cancers caused by HPV infection has been identified via studies of twins and other first-degree relatives, as well as genome-wide association studies. Women who have an affected first-degree biologic relative have a 2-fold relative risk of developing a cervical tumor compared with women who have a nonbiologic first-degree relative with a cervical tumor. [11, 12] Genetic susceptibility accounts for fewer than 1% of cervical cancers.

Genetic changes in several classes of genes have been linked to cervical cancer. Tumor necrosis factor (TNF) is involved in initiating the cell commitment to apoptosis, and the genes TNFa-8, TNFa-572, TNFa-857, TNFa-863, and TNF G-308A have been associated with a higher incidence of cervical cancer. [13, 14, 15, 16] Polymorphisms in another gene involved in apoptosis and gene repair, Tp53, have been associated with an increased rate of HPV infection progressing to cervical cancer. [17, 18, 19, 20, 21]

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