Rare Hereditary Gynecological Cancer Syndromes

Int J Mol Sci. 2022 Jan 29;23(3):1563. doi: 10.3390/ijms23031563.


Hereditary cancer syndromes, which are characterized by onset at an early age and an increased risk of developing certain tumors, are caused by germline pathogenic variants in tumor suppressor genes and are mostly inherited in an autosomal dominant manner. Therefore, hereditary cancer syndromes have been used as powerful models to identify and characterize susceptibility genes associated with cancer. Furthermore, clarification of the association between genotypes and phenotypes in one disease has provided insights into the etiology of other seemingly different diseases. Molecular genetic discoveries from the study of hereditary cancer syndrome have not only changed the methods of diagnosis and management, but have also shed light on the molecular regulatory pathways that are important in the development and treatment of sporadic tumors. The main cancer susceptibility syndromes that involve gynecologic cancers include hereditary breast and ovarian cancer syndrome as well as Lynch syndrome. However, in addition to these two hereditary cancer syndromes, there are several other hereditary syndromes associated with gynecologic cancers. In the present review, we provide an overview of the clinical features, and discuss the molecular genetics, of four rare hereditary gynecological cancer syndromes; Cowden syndrome, Peutz-Jeghers syndrome, DICER1 syndrome and rhabdoid tumor predisposition syndrome 2.

Keywords: Cowden syndrome; DICER1 syndrome; Peutz–Jeghers syndrome; molecular genetics; rare hereditary gynecological cancer; rhabdoid tumor predisposition syndrome 2.

Publication types

  • Review

MeSH terms

  • Female
  • Genetic Predisposition to Disease
  • Genital Neoplasms, Female / genetics
  • Genital Neoplasms, Female / pathology*
  • Humans
  • Molecular Biology
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology*