Referral guidelines - cancer genetics

This page includes information on the referral guidelines for cancer genetics, within the Clinical Genetics department at Great Ormond Street Hospital.

In general the person being referred should be affected or have an affected first degree relative. All affected relatives should be on the same side of the family. It is ESSENTIAL that all ages of diagnosis are specified in the initial referral. Fulfilling the referral criteria does not mean a person will definitely be seen in the genetics clinic. In most cases testing needs to start in an affected family member. If an affected family member is available we would recommend that they be referred in the first instance.

Breast cancer

  • 4 relatives at any age 
  • 3 first/second* degree relatives diagnosed at average age of 50 or less 
  • 2 first/second* degree relatives diagnosed at the age of 45 or less 
  • 1 first degree relative with bilateral breast cancer diagnosed age 50 or less (or any age plus 1 first/second* degree relative with breast cancer diagnosed aged 60 or less) 
  • Male breast cancer plus (on same side of family) 1 first/second* degree relative with breast or ovarian cancer 
  • Woman affected with triple negative breast cancer under the age of 50 
  • Woman affected with breast cancer under the age of 30 

* first degree relative if related through a woman, second degree if related through a man. 

Ovarian cancer

  • 1 first/second* degree relative with ovarian cancer plus;
    - an additional relative with ovarian cancer
    - or an additional relative with male breast cancer
  • 1 first/second* degree relative with ovarian cancer diagnosed below the age of 60 plus 1 first/second degree* relative with breast cancer diagnosed at any age
  • 1 first/second degree relative* with ovarian cancer diagnosed at the age of 60 or above plus;
    - 1 first/second degree relative* with breast cancer diagnosed under the age of 50
    - or 2 first/second degree relatives* with breast cancer diagnosed at average age of below 60
  • A woman with ovarian cancer who also has breast cancer
  • Anyone of Jewish/Polish heritage affected with or 1 first degree relative with breast cancer or ovarian cancer any age.

* first degree relative if related through a woman, second degree if related through a man.

 Bowel cancer

  • 3 relatives affected with colorectal cancer or related cancer at any age (one should be first degree relative of the other two). 
  • 2 relatives affected with colorectal cancer both under 60 years of age 
  • 1 relative with colorectal cancer under 50 years of age. Please include histopathology and immunohistochemistry reports with referral 
  • Familial Adenomatous Polyposis (FAP) or other polyposis syndromes 
  • Hereditary Non Polyposis Colorectal cancer (HNPCC)/Lynch or molecular indication (MSI or IHC results) 
  • More than 10 adenomatous bowel polyps, at any age, no additional family history 
  • More than 5 adenomatous bowel polyps, at any age, with family history of bowel polyps/cancer 
  • Juvenile or harmatomatous bowel polyps– please contact cancer team to discuss. 

related cancers– endometrial, ovarian, small bowel, ureter, renal pelvis and stomach cancer  

Kidney Cancer 

  • Confirmed diagnosis of a genetic kidney cancer syndrome (eg Von Hippel-Landau, Birt-Hogg-Dube, hereditary leiomyomatosis and renal cell cancer, 3p translocation, tuberous sclerosis) 
  • Multiple kidney cancers in the same individual 
  • 2 first or second degree relatives with kidney cancer 
  • Kidney lesion and clinical features suggestive of an underlying genetic cause eg skin lesions or other primary tumour(s) 
  • Multiple renal angiomyolipomas (2 or more of >3cm, or more than 3 of any size) 
  • Kidney cancer under the age of 30 

Endocrine tumours

  • Medullary thyroid carcinomas
  • MEN (Multiple Endocrine Neoplasia )
  • Phaeochromocytomas/ pargangliomas under 50 years of age or 2 relatives affected
  • Bilateral or metastatic phaeochromocytomas/ paraganglioma at any age
  • Parathyroid carcinoma or familial hyperparathyroidism

Unusual cancers

  • Choroid plexus carcinoma or childhood adrenal cortical carcinoma
  • Multiple cancer or sarcoma at a young age (<45 years) on the same side of the family
  • Known single gene tumour syndrome in family (e.g. Von Hippel-Lindau, Li Fraumeni, Cowden, Hereditary Leiomyomatosis Renal Cell Cancer)
  • In any families with unusual patterns of cancer where there is a suspicion of an inherited pre-disposition, please contact us to discuss on an individual basis

Please feel free to contact the Cancer Genetics team for advice prior to referral of other cancer family histories, or families in which the history is not easily classified.