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 enquiry should be made for peri-menopausal or post-menopausal vaginal bleeding during routine health checks. ACOG: well-woman health care Opens in new window

Women with 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 (counselling 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]​​[97]

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 counselling 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 tumour 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.[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 post-menopausal 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 post-menopausal 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 favourable histology and higher stage at diagnosis.[71][73][74][75][76]​​​

Post-menopausal 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 post-menopausal 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 post-menopausal vaginal bleeding.[74]

Ultrasound may have a role prior to commencing tamoxifen to identify pre-existing benign lesions.[70][74][163]

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

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