Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below:
Pathogenic variant identified in the family |
UNTESTED adult blood relative of a person with an identified pathogenic variant in an endometrial cancer predisposition gene (e.g. MLH1, MSH2, MSH6, PMS2, PTEN). |
Blood relative of a person with a clinical diagnosis of a familial cancer syndrome that predisposes to endometrial cancer (e.g. Lynch syndrome, PTEN hamartoma syndrome) |
Tumour pathology |
Characteristics that warrant referral irrespective of other factors |
Endometrial cancer that is MMR-deficient (except where there is loss of expression of MLH1, and hypermethylation of the MLH1 promoter is present) |
For those with a personal history of endometrial cancer |
Individual characteristics that warrant referral irrespective of other factors |
Endometrial cancer diagnosed under age 45 years |
Endometrial cancer AND one of the following:
- a personal history of a second Lynch syndrome-associated cancer#
- a close relative* with colorectal or endometrial cancer diagnosed under age 50 years
- two or more close relatives* with a Lynch syndrome-associated cancer#
|
Endometrial cancer and features of PTEN hamartoma/Cowden syndrome, including but not limited to:
- macrocephaly
- hamartomatous colorectal polyps
- multiple oral mucosal papillomas
- multiple cutaneous trichilemmoma
- thyroid cancer (non-medullary)
|
For those with a family history of cancer |
Characteristics sufficient to warrant referral irrespective of other factors |
Close relative* with endometrial cancer and one or more Lynch syndrome-associated cancer(s)#, regardless of the age the cancers were diagnosed |
Two or more close relatives* with endometrial or colorectal cancer, with at least one of the cancers diagnosed under age 50 years |
Three or more close relatives* with a Lynch syndrome-associated cancer#, regardless of the age the cancers were diagnosed |
Family history of endometrial cancer and features of PTEN hamartoma/Cowden syndrome (see above) |
* Close relative = 1st or 2nd degree
# Lynch syndrome-associated cancer includes adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, urothelial carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumour