Cancer genetics referral guidelines

 

The following family histories are suggestive of an inherited cancer predisposition and would be appropriate for referral. This list is a guide only, and is not comprehensive. If you are unsure whether to refer, please telephone 01223 216446 between 9am and 5pm and speak to the on-call team.

  • Referrals can be made for individuals affected by cancer or for their close relatives. If possible, refer the affected person in the first instance.
  • Close relatives are father/mother, brother/sister and son/daughter.
  • Affected relatives must be close relatives of each other, through either the maternal or the paternal side.
  • In breast/ovarian cancer families, women related through unaffected men are considered close relatives (ie a paternal family history may still be significant).
  • Few families have a mutation in a known cancer gene. For many it will not be appropriate to offer genetic testing.
  • In general, a living relative affected by cancer is tested prior to offering testing to unaffected family members. This maximizes the chance of finding the family gene mutation if one exists.
  • Not all individuals referred will be eligible for additional screening.
  • Not all individuals referred will be offered a clinic appointment; some may receive a risk assessment by letter.

Breast/ovarian cancer families

  • Breast cancer under 40
  • Grade 3 triple negative breast cancer under 50
  • Two cases of breast cancer (including bilateral breast cancer), average under 50
  • Three cases of breast cancer, average under 60
  • Four or more cases of breast cancer
  • Male breast cancer at any age plus breast cancer (male or female) under 60
  • Breast cancer and ovarian cancer in a single individual
  • High grade serous papillary ovarian cancer under 60
  • Ovarian cancer at any age plus breast cancer under 60
  • Two or more cases of ovarian cancer
  • A woman with Ashkenazi Jewish ancestry and any family history of breast or ovarian cancer
  • Families in whom a BRCA1 or BRCA2 mutation has been identified

Colorectal cancer families

  • Colorectal cancer under 50
  • Two cases of colorectal cancer, average under 60
  • Colorectal cancer plus one gastrointestinal, endometrial, ovarian, renal or urinary tract cancer, average under 60
  • Three or more cases of gastrointestinal, endometrial, ovarian, renal or urinary tract cancers
  • Multiple gastrointestinal polyps
  • Families in whom a Lynch syndrome (HNPCC) or familial adenomatous polyposis (FAP) mutation has been identified

Prostate cancer families

  • Prostate cancer under 60
  • Two cases of prostate cancer, at least one under 65
  • Three or more cases of prostate cancer
  • Prostate cancer under 70, with a strong family history of breast/ovarian cancer

Pancreatic cancer families

  • Pancreatic cancer under 50
  • Pancreatic cancer with a previous malignancy (eg breast cancer)
  • Two or more cases of pancreatic cancer at any age

Other families

  • Three or more primary cancers in a single individual
  • Three or more cases of cancer at the same site
  • Any two of: sarcoma, breast cancer, brain tumour, leukaemia or adrenal cortical tumour, one under 45
  • Childhood cancer plus one close relative with cancer
  • Any individual or family with an unusual pattern of cancer e.g rare tumours or young ages at diagnosis
  • Families with a known cancer predisposition syndrome e.g. Li-Fraumeni, MEN1, MEN2, Von Hippel-Lindau