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Endometrial Cancer Risk Assessment and consideration of Genetic Testing

The following women who fall into the categories below warrant a referral to the NZ Family Cancer Service for assessment.

UNTESTED adult blood relative of a person with an identified mutation in an endometrial cancer predisposition gene (MHL1, MSH2, MSH6, PMS2, PTEN)

Tumor pathology

  • Endometrial carcinoma where tumour testing detected microsatellite instability (MSI) or abnormal MMR immunohistochemistry (except where there is loss of expression of MLH1, and hypermethylation of the MLH1 promoter)
  • Sarcoma of endometrium (e.g. Leiomyosarcoma) <60 years

For those with a personal history of cancer

Endometrial carcinoma and features of Cowden syndrome (PTEN hamartoma syndrome) including:

  • macrocephaly and/or
  • hamartomatous colorectal polyps and/or
  • oral mucosal papillomatosis and/or
  • multiple cutaneous tricholemmoma
  • thyroid cancer
  • renal cancer
  • oesophageal Glycogenic Acanthosis

Endometrial carcinoma diagnosed under the age of 50 years

Personal history of endometrial carcinoma and a second Lynch syndrome associated cancer

  • Personal history of endometrial carcinoma AND a family history of 1 or more 1st or 2nd degree relatives with colorectal or endometrial cancer, with at least one of the cancers diagnosed under the age of 50 years
  • Personal history of endometrial carcinoma AND a family history of 2 or more 1st or 2nd degree relatives with a Lynch syndrome associated cancer regardless of the age the cancers were diagnosed

For those with a family history of cancer

  • Family history of 2 or more 1st or 2nd degree relatives with colorectal or endometrial cancer, with at least one of the cancers diagnosed under the age of 50 years
  • Family history of 3 or more 1st or 2nd degree relatives with a Lynch syndrome associated cancer, regardless of the age the cancers were diagnosed

Lynch syndrome associated cancer includes adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, transitional cell carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumours, keratoacanthoma

Referrals