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Cancer Referrals

Less than 10% of cancer is due to an inherited predisposition however many individuals have concerns about a family history of cancer. It is unlikely that familial cancer clusters are inherited if:

  1. Different cancer sites are involved
  2. Cancers occur later in life
  3. The cancers have strong environmental influence e.g smoking or UV light.

Guidelines for referrals for Breast Cancer, Ovarian Cancer, Breast and Ovarian Cancer, Colorectal Cancer and Other Cancers are listed below. The overall benefit of surveillance outside these guidelines has not been established. If you are unsure, please contact us for advice.

Please note that meeting referral criteria does not necessarily mean your patient will receive a genetic test. There may be opportunities for research for some patients not eligible for testing as for some we may be able to provide screening guidance.

We work to the national genomics test directory testing criteria which itself is subject to changes.

For further information please see rare and inherited disease eligibility criteria.pdf for the Rare and inherited disease eligibility criteria.

 

Please note close relatives are mother, father, sibling, child, parent’s siblings or grandparents.

  • For patients diagnosed with cancer

    Please send a copy of the histology for your patient’s diagnosis along with their referral. 

    *Referrals may be processed without this, but not sending the histology for your patient may delay their appointment as it is vital to inform our patient care. 

  • For patients not diagnosed with cancer

    All patients from a family with a confirmed cancer predisposition syndrome should be referred with the name and date of birth of the relative with the familial pathogenic gene alteration, if possible.


    Genetic testing is most informative in an individual with the type of cancer under investigation. If your patient has not had a cancer and no genetic testing has been performed in the family - please inform your patient that they may not be offered a genetic test. 

Personal or family history of: 

  • Breast Cancer

    The usual route for breast family history assessment should be though regional breast screening units who provide this service. If your patient meets testing criteria they will then be referred to us. If for any reason this cannot happen a direct referral to us can be done if the patient to be referred is affected by cancer and fulfils one of the below criteria OR is unaffected and has a close family history of:

    • Breast cancer below 40
    • Medullary/basal or triple negative under 60
    • Bilateral disease, first cancer diagnosed under 50
    • Male breast cancer, any age
    • Two close relatives (including one first degree), average age below 50
    • Three close relatives (including one first degree), average age under 60
    • 4 or more relatives with breast cancer on one side of the family

     

  • Ovarian Cancer

    The patient to be referred is affected by cancer and fulfils one of the below criteria/clusters OR is unaffected and has a close family history of:

    • One ovarian cancer (papillary serous, epithelial origin). There is little benefit in referring unless there is a living affected relative if the patient is unaffected themselves.
    • Two close relatives with ovarian cancer under 70
    • Breast and Ovarian Cancer
    • The patient is affected by or has a close family history of one of each tumour; both under the age of 70.
  • Colorectal Cancer
    • Loss of proteins on mismatch repair immunohistochemistry (MMR IHC). If loss of MLH1 and PMS2, please first carry out MLH1 promoter hypermethylation studies and refer if not hypermethylated.
    • Patient diagnosed with bowel cancer younger than 50 years.
    • Patient diagnosed with two Lynch syndrome related cancers* where one is either colorectal or endometrial cancer.
    • Patient diagnosed with bowel cancer and family reaches Amsterdam Criteria**
    • Patient diagnosed with a non-colorectal Lynch syndrome-related cancer* younger than 50 years e.g. endometrial or ovarian cancer (MMR IHC testing to first be performed locally, if possible)
    • Patient is unaffected with cancer but all affected family members are deceased, AND they have a first degree relative with bowel cancer younger than 30 years, OR they have two first degree relatives diagnosed with a Lynch syndrome-related cancer* younger than 60 years, OR family reaches Amsterdam Criteria**

     

    * Lynch-related cancers comprise: colorectal, endometrial, endocervical, ovarian, pancreatic, ureteric, transitional cell cancer of renal pelvis, gastric, hepatobiliary tract, small bowel, glioblastoma, pancreatic, prostate, multiple sebaceous adenomata, multiple sebaceous epitheliomas, multiple keratoacanthomas, and sebaceous carcinoma.

    ** Amsterdam Criteria: >3 closely related family members diagnosed with Lynch-related cancers over >2 generations with >1 case diagnosed <50 years.

  • Polyposis
    • Patient diagnosed under 40 years: 5 or more adenomas
    • Patient diagnosed under 60 years: 10 or more adenomas, or 5 or more adenomas with first degree relative with 5 or more adenomas younger than 60
    • Patient diagnosed at any age: 20 or more adenomas, or bowel cancer at any age and 5 or more adenomas
    • Patient has unusual types of polyps such as juvenile, Peutz-Jeghers or hamartomatous polyps
    • Patient has clinical signs indicating potential diagnosis of Familial Adenomatous Polyposis e.g. FAP-related CHRPE
  • Other Cancers

    The patient to be referred is affected by cancer and fulfils one of the below criteria/clusters OR is unaffected and has a close family history of:

    • Multiple primary cancers in one individual
    • Three or more relatives with cancers at the same site
    • Three or more relatives with cancer at an earlier age than expected in the general population
    • Three or more relatives with cancers of breast/ovary/prostate/ pancreas/ melanoma/thyroid/sarcoma/adrenal cortical tumours, or other non-melanoma skin tumours or carcinoma
    • Renal cancer below 50, bilateral or multifocal renal cancer at any age, renal cancer and syndromic features please see test directory for more detail.
    • Medullary thyroid cancer any age
    • Phaeochromocytoma under 50, OR 2 relatives affected OR bilateral or metastatic
    • Parathyroid carcinoma or familial hyperparathyroidism

     

     

The overall benefit of surveillance outside these guidelines has not been established.

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