Presentation: Patient with a family history of breast and/or ovarian cancer
A patient with a family history of breast and/or ovarian cancer may be at above-population risk of developing those cancers, possibly due to an inherited cancer predisposition syndrome. It is important to identify those at risk and facilitate onward referral to secondary care.
At a glance:
- A family history of multiple breast and/or ovarian cancer diagnoses, particularly at younger ages, may indicate that a patient is at above-population risk of developing those cancers.
- It is important to identify those at above-population risk and instigate referral to secondary care (usually to breast or gynaecology clinics) for appropriate screening and/or risk-reducing measures.
- If an individual has an inherited cancer predisposition syndrome, such as Lynch syndrome, or pathological variants in BRCA1 and/or BRCA2, they are at high risk of specific cancers, including breast and ovarian cancer.
- Alert! Although cancer is common in the general population, inherited cancer predisposition syndromes account for just 5% of all cancers.
Example clinical scenario
A 28-year-old woman presents with concerns about her family history of cancer. Her mother was diagnosed with breast cancer at the age of 39, and her cousin has just been diagnosed with ovarian cancer at the age of 44.
Identifying those at risk of a genetic condition
- Breast cancer is a common diagnosis in the general population. The majority of cases do not have an identifiable heritable genetic cause.
- A large proportion of familial breast cancer is caused by polygenic inheritance: inheriting multiple lower-risk genetic variants that collectively increase cancer risk.
- A smaller proportion of familial breast cancer is caused by inherited high-risk pathogenic variants in cancer predisposition genes such as BRCA1.
- Flags for an underlying genetic diagnosis include:
- early age of cancer diagnosis;
- male relatives diagnosed with breast cancer at any age;
- more than one case of breast cancer with or without related cancers (including ovarian cancer, prostate cancer, melanoma, adrenocortical tumours in childhood, sarcomas and thyroid cancer);
- multiple close relatives with one of the above associated cancers; and
- Jewish ancestry (these individuals are 5 to 10 times more likely to have BRCA1 or BRCA2 pathogenic variants).
What do you need to do?
- Assess the patient’s family history. Focus on the age of any cancer diagnosis in relatives, the sites of tumours, any presence of multiple cancers (including bilateral disease) and any Jewish ancestry. The NHS runs a Jewish community BRCA screening programme, from which more information can be gathered.
- The NICE guidance on familial breast cancer and related cancers identifies those individuals with a family history of breast and/or ovarian cancer who can be managed in primary care, including clear eligibility criteria for genomic testing. Secondary care services will either instigate testing or refer the case to clinical genetics.
- Refer to secondary care, usually a breast clinic as per NICE guidance, if any of the following is present:
- one female first-degree relative affected by breast cancer below the age of 40;
- one male first-degree relative diagnosed with breast cancer at any age;
- one first-degree relative diagnosed with bilateral breast cancer where the first primary occurred below the age of 50;
- two first-degree relatives or one first-degree relative and one second-degree relative diagnosed with breast cancer at any age;
- one first-degree relative or second-degree relative diagnosed with breast cancer at any age and one first-degree relative or second-degree relative diagnosed with ovarian cancer at any age (one of these two should be a first-degree relative); and
- three first-degree relatives or second-degree relatives diagnosed with breast cancer at any age.
- A patient can be defined as having near-population risk if:
- only one female relative is affected with breast cancer below the age of 40;
- there is no Jewish heritage; and
- none of the associated cancers described above are present.
- Management in primary care for individuals at near-population risk should include:
- advice to return if any suspicious symptoms arise or if there is a change in the family history;
- advice regarding the NHS breast screening programme and lifestyle factors, such as smoking, alcohol and weight; and
- provision of breast awareness information.
- For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
- Information about patient eligibility and test indications were correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.
Resources
For clinicians
- Macmillan Cancer Support: Rapid referral guidelines for suspected cancer
- NICE: Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer
- Royal College of General Practitioners: Care pathway for assessment and care of people with a family history of breast cancer (PDF, one page)
For patients
- Cancer Research UK: Family history and inherited cancer genes
- Macmillan Cancer Support: Family history, genes and cancer risk
- Macmillan Cancer Support: Risk factors for breast cancer
- NHS Health A to Z: When you’ll be invited for breast screening and who should go