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 (35% to 54% lifetime risk).[74]​​[75]​​[90]

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.[74][75]​​

Criteria for evaluation of Lynch syndrome include:[74]

  • 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, 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 child-bearing.[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

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

Routine endometrial surveillance has not been found to be effective in increasing the early detection of endometrial cancer in post-menopausal 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 post-menopausal vaginal bleeding.[68]

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

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