Family History of Mixed Cancers

Cancer is a common illness expected to affect 1 in 2 people in their lifetime. Therefore, many people will have some family history of cancer. Most of these cancers happen by chance rather than having an inherited cause. Only around 5-10% of cancers have an inherited component.

The cancer genetics service performs risk assessments for patients affected by cancer and/or with a family history of cancer to determine how likely it is that the cancer is inherited, what an individual’s risk is, whether genetic testing is possible or appropriate and what measures can be taken to manage or minimise inherited cancer risks.

We have developed the following guidance for Healthcare Professionals to assess which patients meet our referral criteria.

Once you have read the guidance, if you are still uncertain whether your patient should be referred, please email WGH.ClinicalGenetics@nhslothian.scot.nhs.uk.

Alternatively, you can contact us on 0131 537 1116 and ask for the Duty Genetic Counsellor.

We have produced specific guidelines for Breast and/or Ovarian and Colorectal Cancer including Lynch-related cancers. Please see the links from the main Clinical Genetics Page for this guidance.

For all other cancer types, please see the general advice below.

Important points for assessing family history of cancer:

A First Degree Relative (FDR) is a mother, father, brother, sister, or child
A Second Degree Relative (SDR) is a grandmother, grandfather, uncle, aunt, or grandchild
Cancers should all be on the same side of the family
A family member with more than one primary cancer is counted as multiple relatives for the purpose of the guidelines
A case of bilateral breast cancer counts as 2 cancers

Factors indicating possible increased genetic susceptibility:

Cancers diagnosed below age 50
A family member with multiple primary cancer diagnoses
Two first degree relatives with the same or a related cancer
At least two first-degree or second- degree relatives with the same or related cancers on the same side of the family
Three or more relatives with the same or related cancers on the same side of the family
Any unusual patterns of cancer which seems unlikely to have occurred by chance

Cancers/Tumours that are less likely to have an inherited component:

Lung (except rare types e.g., pleuropulmonary blastoma)
Cervical
Anal

J.B & S.H 01-11-23

Who to refer:

Patients who report a family history of cancer

Patients who have not had cancer but report a family history of cancer should self-refer using our family history questionnaire (details below) if they meet any of the family history criteria above.

Patients with a personal cancer diagnosis

Patients affected by cancer will be offered genetic testing if they meet any of the criteria for genetic testing listed in the Scottish Genomic Test Directory. This can be found at the following link: Scottish Rare and Inherited Disease Test Directory

Patients with cancer who are eligible for genetic testing, who have not already had genetic testing undertaken as part of their treatment, can be referred directly to Clinical Genetics.

Once you have read the guidance, if you are still uncertain whether your patient with a personal cancer diagnosis should be referred then please email or phone the department to discuss.

Patients with a known pathogenic variant/genetic alteration in the family:

If a likely pathogenic or pathogenic variant in a known cancer predisposition gene e.g., BRCA1, has already been identified in a family member, these patients should be referred directly to Clinical Genetics with the name and date of birth of the relative, the gene in which the variant has been identified and where they were tested. If your patient has been given a letter from a Genetics service and/or a test report from a relative, it is extremely useful if a copy of this is attached to the referral.

Who not to refer:

Any patients that do not meet referral criteria will likely have a risk of cancer similar to the general population. Please reassure these patients that they do not have a significantly increased risk of cancer. For these patients, the most effective way to reduce the risk of cancer is to lead a healthy lifestyle. There are resources listed under Resources and Links that may be helpful for patients.

A patient’s risk assessment may change if there is a new diagnosis of cancer in the family in future. If this is the case, where appropriate they can be advised to return for further assessment.

How to refer:

Patients who report a significant Family History of Cancer but who have NOT had cancer, meeting the criteria detailed above

Patients who have not had cancer but report a significant family history of cancer should self-refer using our family history questionnaire. The patient should only be directed to the Family History Questionnaire, if you believe that the family history is significant. The questionnaire can be printed out for a patient, or you can send them the website link below.

LINK TO PDF FOR FHQ

LINK TO WEBSITE TO DOWLOAD FHQ

Text for copying to send to patients (e.g., to copy in a letter or text message) for FHQ:

https://services.nhslothian.scot/geneticservice/wp-content/uploads/sites/54/2024/08/FHQ-2024-version-4.pdf

Patients should return this to us directly to initiate a referral. They must complete the first section which asks which service/healthcare professional referred them to this questionnaire. The questionnaire is an editable PDF and by clicking submit at the end of the questionnaire, this should attach to an email to be sent directly by the patient.

Alternatively, patients can attach it to an email manually and send this to: WGH.ClinicalGenetics@nhslothian.scot.nhs.uk

Or patients can print out the questionnaire and post it to:

Referral Administration

SE Scotland Clinical Genetics Service

Western General Hospital, Crewe Road South, Edinburgh, EH4 2XU

Patients can drop the completed FHQ directly to their GP surgery who can return it to Clinical Genetics Department if this agreement has been made by their GP practice.

What if my patient can’t complete the questionnaire?

If you think that the family history is significant, but you do not think your patient is able to complete the questionnaire (for example due to learning difficulties or if they cannot read/write English) please refer them directly stating as much family history as possible and your reason for not giving them the family history questionnaire. In these exceptional cases, then please submit the referral via SCI Gateway.

Where possible, all family history referrals should be made via the self-referral questionnaire route. This is because cancer types and ages at diagnosis are often misreported, and the questionnaire allows the cancer genetics service to verify diagnoses where appropriate. If a referral regarding family history of cancer is received into the department without the questionnaire and a reason why has not been given, the referral will not be accepted.

Referrals are triaged by the Clinical Genetics team. Depending on the family history an assessment may be completed by letter or appointment.

It is important that patients are aware that they may not receive a Clinical Genetics appointment and may be referred directly for screening.

Patients with a personal cancer diagnosis meeting the criteria above, or Patients with a known pathogenic variant / genetic alternation in the family

Referrals can be sent via: