Personal or Family History of Breast Cancer – South East Scotland Genetic Service

Asymptomatic women with a significant family history (see table below) should be referred to Clinical Genetics for assessment of family history and eligibility for screening and/or genetic testing.

Referrals are triaged by the Clinical Genetics team. Depending on the family history an assessment may be completed by letter or by sending the patient a family history questionnaire (if further information is required) or by appointment.

If appropriate, a referral for breast screening will be made by Clinical Genetics.

Please note that not all referrals will be allocated an appointment with Clinical Genetics.

Referral Guidelines

One affected relative must be a first degree relative unless through an intervening male and they must all be on the same side of the family.

Family History of Breast Cancer

Number of relatives affected with breast cancer	Family History of Breast Cancer	Low Risk	Moderate Risk	High Risk
1 relative	FDR diagnosed > 40 years	Reassure
	FDR diagnosed < 40 years		Refer
	FDR diagnosed with breast and ovarian cancer (double primary)			Refer
	Male FDR at any age		Refer
2 Relitives	2 relatives both diagnosed > 60 years	Reassure
	FDR diagnosed < 60 years plus FDR or SDR diagnosed < 60 years		Refer
	FDR diagnosed with bilateral breast cancer < 60 years		Refer
	FDR or SDR diagnosed breast cancer < 60 years and FDR or SDR with ovarian cancer at any age		Refer
3 Relitives	3 FDR or SDR diagnosed at any age on the SAME side of the family (one must be FDR of patient or SDR via father)		Refer
4 or more relitives	Diagnosed < 60 years (one must be FDR of patient or SDR via father)			Refer
If there is a known genetic predisposition in the family e.g. a BRCA mutation, you can refer your patient for discussion of predictive testing and management options.

First degree relatives: Mother father, sister, brother, daughter, son.
Second degree relatives: Grandmother, grandfather, aunt, uncle, granddaughter, grandson, niece, nephew

Patients with a low risk family history (above) are eligible for the National Breast Screening Programme from 50 years. They should NOT be referred to Genetic Services.

Patients who have had cancer – for consideration of genetic testing

Patients who have had cancer AND who meet any of the following criteria may be eligible for genetic testing:-

Breast cancer under 40
Triple negative breast cancer, any age
Bilateral breast cancer, both diagnosed under 60 years
High grade serous ovarian cancer, diagnosed any age
THREE breast cancers in family, diagnosis under 50
FOUR breast cancers in family, diagnosis under 60
Families of Ashkenazi Jewish/ Polish descent with a history of breast/ovarian cancer in the family

In most families, a genetic test for cancer predisposition will not be available to family members who have NOT developed a cancer unless a pathogenic gene mutation has already been identified in an affected relative. If a mutation has been identified in the family please include in your referral the name and date of birth of the affected relative, and if possible which genetic centre they attended.

How to Refer

Please send referrals electronically

SCI-Gateway

WGH.ClinicalGenetics@nhslothian.scot.nhs.uk

or by post to

Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital
Crewe Road South
Edinburgh
EH4 2XU

If you wish to discuss a referral please call 0131 537 1116 and ask for the Duty Staff, alternatively email WGH.ClinicalGenetics@nhslothian.scot.nhs.uk