Original Article

Familial Cancer

, Volume 12, Issue 2, pp 273-277

First online:

Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention

  • Karen H. LuAffiliated withH.E.B. Professor of Cancer Research, Department of Gynecologic Oncology and Reproductive Medicine, University of Texas MD Anderson Cancer Center Email author 
  • , Molly DanielsAffiliated withDepartment of Gynecologic Oncology and Reproductive Medicine, University of Texas MD Anderson Cancer Center

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Abstract

Women with Lynch syndrome have an additional need to address the substantial increased lifetime risk of endometrial and ovarian cancer. Endometrial or ovarian cancer can be the presenting cancer in individuals with Lynch syndrome, or can be a second cancer. Lifetime risk of endometrial cancer in women with MLH1 or MSH2 mutations is approximately 40 %, with a median age of 49. Women with MSH6 mutations have a similar risk of endometrial cancer but a later age of diagnosis. Lynch syndrome-associated endometrial cancers are primarily endometrioid, although non-endometrioid subtypes including clear cell, papillary serous and MMMT have been reported. In addition, endometrial cancers arising in the lower uterine segment, while rare in the general population, are enriched in women with Lynch syndrome. Ovarian cancer risk in women with Lynch syndrome is 6–8 %, and Lynch syndrome-associated ovarian cancers exhibit a variety of histopathological subtypes. Studies of endometrial cancer screening in Lynch syndrome have been small, and more recently have focused on the use of office endometrial biopsy to identify pre-malignant and early stage cancers. Prevention options include the use of oral contraceptives, which are known to be highly effective for decreasing risk of both endometrial and ovarian cancer in the general population, and prophylactic surgery to remove the uterus and ovaries.

Keywords

Cancer prevention Cancer screening Endometrial cancer Lynch syndrome Ovarian cancer