Twin Research and Human Genetics


The Roles of Genetic and Environmental Factors on Risk of Cervical Cancer: A Review of Classical Twin Studies

Elya E. Moorea1a2 c1, John D. Warka3, John L. Hoppera4, Bircan Erbasa4a5, Suzanne M. Garlanda1a2a6 and CeCaGeEn Study Group

a1 Microbiology and Infectious Diseases Department, Royal Women's Hospital, Melbourne, Australia

a2 Murdoch Childrens Research Institute, Melbourne, Australia

a3 University of Melbourne Department of Medicine, and Bone and Mineral Service, Royal Melbourne Hospital, Australia

a4 School of Population Health, University of Melbourne, Australia

a5 School of Public Health, La Trobe University, Melbourne, Australia

a6 Department of Obstetrics and Gynaecology, University of Melbourne, Australia


Cervical cancer is the third most common cancer in women worldwide. Persistent infection with an oncogenic human papillomavirus (HPV) is necessary, but not sufficient, for its development. Over many years, only a small proportion of women with chronic HPV infection progress to develop disease. The role of host genes and environmental factors in the pathogenesis of, or predisposition to, cervical cancer is still unclear. We conducted a systematic review of published literature in MEDLINE–PubMed to identify studies of cervical cancer susceptibility that used a twin study design. We used standard MeSH terms (controlled vocabulary) as well as specific free-text terms and combinations of terms related to cervical cancer, with no restriction on publication date. We performed a full text review to ensure the identified articles met our inclusion criteria and, if so, extracted information on demographics, sample size, study definitions, and key statistical findings. Of the 285 articles identified, three utilized a classical twin design and reported results specific to cervical cancer. The studies were based on cancer registry data from Scandinavia, with sample sizes ranging from 312 to 710 twin pairs. The findings from one study were consistent with a genetic mechanism for the causation of carcinoma in situ. Future research studies using the strength of the classic twin design, together with incorporation of HPV DNA status, are indicated to determine whether there is a potential role for genetic factors in the development of cervical cancer or high-grade cervical dysplasia from chronic oncogenic HPV infection.

(Received April 11 2011)

(Accepted November 03 2011)


  • cervical cancer;
  • classical twin studies;
  • human papillomavirus


c1 Address for Correspondence: Elya Moore, Microbiology and Infectious Diseases Department, Royal Women's Hospital, Parkville VIC 3052, Australia. Email: