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 (35% to 54% lifetime risk).[74][75]​​[89]​​​

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.[74][75]​​

Criteria for evaluation of Lynch syndrome include:[74]

  • 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, or with a strong family history of related cancers.

  • 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, or with additional first- or second-degree relatives with related cancers.

Genetic testing for a specific pathogenic variant can be carried out, if known; germline multigene panel testing is recommended if the variant is unknown.[74]

If Lynch syndrome is confirmed, offer timely cascade testing.[135]

Surveillance for women with Lynch syndrome

Endometrial biopsy every 1 or 2 years, starting at age 30 to 35 years, is recommended for women with Lynch syndrome.[74][75]​​

Transvaginal ultrasound may be considered in postmenopausal patients with Lynch syndrome, although it lacks diagnostic accuracy.[75]​ Transvaginal ultrasound is not recommended in premenopausal patients because of variation in endometrial stripe thickness during the menstrual cycle.[74]

Women with Lynch syndrome may benefit from a prophylactic, risk-reducing hysterectomy after completion of childbearing.[36][37][75]​​​​[89][90][136]​​​​ Prophylactic bilateral salpingo-oophorectomy (BSO) may also be beneficial because of the high risk of ovarian cancer associated with some Lynch syndrome mutations.[74]​​[75]​​[91]​​ See Primary prevention.​​

Screening women treated with tamoxifen

Premenopausal women treated with tamoxifen have no increased risk of endometrial cancer and, as such, require no additional monitoring beyond routine gynecologic care.[69]

Routine endometrial surveillance has not been found to be effective in increasing the early detection of endometrial cancer in postmenopausal women using tamoxifen who are not at high risk for endometrial cancer.[137][138] Such surveillance may lead to more invasive and costly diagnostic procedures and is not, therefore, recommended.[139][140]

Although screening with ultrasound for thickened endometrial stripe has been advocated (as there is a >7-fold increased risk of endometrial cancer in women with breast cancer exposed to tamoxifen), no clear survival advantage has been demonstrated over clinical surveillance for postmenopausal vaginal bleeding.[68]

Ultrasound may have a role prior to commencing tamoxifen to identify preexisting benign lesions.[66][68]

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