Screening

There is no evidence to support screening in the general population. Although the condition is common, it has a classical presentation (abnormal vaginal bleeding) and good prognosis with effective treatment (surgery). For all women, an inquiry should be made for perimenopausal or postmenopausal vaginal bleeding during routine health checks. ACOG: well-woman health care Opens in new window

Women with a personal history or a significant family history consistent with Lynch syndrome may benefit from genetic risk assessment. Identification of Lynch syndrome allows for risk-reduction strategies, surveillance for early detection, and cascade testing (counseling and testing of blood relatives of individuals identified with a specific genetic mutation).

Women with Lynch syndrome should be offered regular endometrial biopsy because of their high risk of endometrial cancer (lifetime risk 35% to 54% for the MLH1 variant; 21% to 57% for MSH2 and EPCAM; 16% to 49% for MSH6; 13% to 26% for PMS2) compared with the general population (3.1%).[81][82]​​​[96]​​​

Screening for Lynch syndrome

A careful personal and family history may identify patients at increased risk of Lynch syndrome who should be offered genetic risk assessment (including counseling and genetic testing) for Lynch syndrome.[81][82]​​

Criteria for evaluation of Lynch syndrome include:[81]

  • Blood relative with a known Lynch syndrome pathogenic variant.

  • Personal history of a tumor with MMR deficiency.

  • Personal history of a Lynch syndrome-related cancer with diagnosis at age <50 years, or with a synchronous or metachronous related cancer, or with a strong family history of related cancer.

  • Family history including a first-degree relative with colorectal and/or endometrial cancer with diagnosis at age <50 years, or with a synchronous or metachronous Lynch syndrome-related cancer.

  • Family history including two or more first- or second-degree relatives with Lynch syndrome-related cancers.

Germline testing for a specific pathogenic variant can be carried out, if known; tailored germline multigene panel testing is recommended if the variant is unknown, based on personal and family history.[81]

If Lynch syndrome is confirmed, offer timely cascade testing.[156]

Surveillance for women with Lynch syndrome

Endometrial biopsy every 1 or 2 years, starting at age 30 to 35 years, may be considered for women with Lynch syndrome.[81][82]​​​ Biopsy has high diagnostic accuracy, but benefit from screening has not been proven.

Transvaginal ultrasound may be considered in postmenopausal patients with Lynch syndrome, although it lacks diagnostic accuracy.[82]​ Transvaginal ultrasound is not recommended in premenopausal patients because of variation in endometrial stripe thickness during the menstrual cycle.[81]

Women with Lynch syndrome may benefit from a prophylactic, risk-reducing hysterectomy after completion of childbearing.[39][40][82]​​​​[96][97][157]​​​​ Prophylactic bilateral salpingo-oophorectomy (BSO) may also be beneficial because of the high risk of ovarian cancer associated with some Lynch syndrome mutations.[81]​​[82]​​[98]​​ See Primary prevention.​​

Surveillance for women treated with tamoxifen

Risk of endometrial cancer is increased (two- to sevenfold) in postmenopausal women treated with tamoxifen for breast cancer.[71][72]​ Risk increases with duration of use. Tamoxifen-associated endometrial cancer may be associated with worse prognosis due to less favorable histology and higher stage at diagnosis.[71][73][74][75]​​[76]​​

Postmenopausal women taking tamoxifen should be closely monitored for symptoms and advised to promptly report any abnormal vaginal bleeding.[72][74]​ Routine endometrial surveillance has not been found to increase early detection of endometrial cancer in postmenopausal tamoxifen users who are not at high risk for endometrial cancer.[71][158][159]​ Such surveillance may lead to more invasive and costly diagnostic procedures and is not, therefore, recommended.[72][160][161][162]​​​​

No clear survival advantage has been demonstrated with ultrasound screening over clinical surveillance for postmenopausal vaginal bleeding.[74] 

Ultrasound may have a role prior to commencing tamoxifen to identify preexisting benign lesions.[70][74][163]​​

Premenopausal women treated with tamoxifen have no increased risk of endometrial cancer and, as such, require no additional monitoring beyond routine gynecologic care.[72] 

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