Breast cancer screening with a family history
The case
A 42-year-old woman attends for a routine consultation, concerned about breast cancer risk. Her mother was diagnosed with ER-positive postmenopausal breast cancer at 62; no other first-degree relatives are affected. She has no personal history of breast disease, atypical hyperplasia or chest radiation, and her breasts were reported as fatty on previous imaging. She is nulliparous with a BMI of 24 kg/m². A family cancer clinic has classified her as slightly increased risk (lifetime risk about 18%, population average about 12%). What is the most appropriate advice regarding breast cancer screening?
Options
- ABiennial screening mammography from 40 to 74
- BAnnual mammography from 40 plus ultrasound
- CAnnual mammography and MRI from 40
- DSix-monthly clinical breast examination
- ENo routine screening until 50
Think it through before you read on. Which single option is best, and why are the other four wrong?
Show the answer and explanation
Answer
A. Biennial screening mammography from 40 to 74
Why this is the right answer
Australia stratifies familial breast cancer risk into three categories, using Cancer Australia's familial risk assessment tool. Category 1 (at or slightly above population risk) includes women with one first-degree relative diagnosed at 50 or older, which is this woman's situation: her lifetime risk of about 18% is only modestly above the 12% average. Category 2 (moderately increased) and Category 3 (potentially high, for example BRCA carriers or several relatives diagnosed young) need more intensive surveillance and genetics referral.
For Category 1, the advice is population screening through BreastScreen Australia: a free mammogram every 2 years. The program actively invites women aged 50 to 74, but women aged 40 to 49 and 75 and over can attend on request. A woman in this category with a family history is entitled to start at 40 if she wishes, and many clinicians encourage it.
The RACGP Red Book recommends the same: biennial mammography from 50 to 74 for average-risk women, with earlier or individualised screening for those at increased risk. Ultrasound is not a screening test; it is used to investigate a symptom or a dense mammogram. MRI screening is reserved for high-risk women (roughly a lifetime risk above 30%, or known gene carriers) and Medicare funds it only for high-risk women under 50.
Clinical breast examination and self-examination have not been shown to reduce mortality and are not part of the Australian screening program, although breast awareness (knowing what is normal for you and reporting change) is encouraged.
She should also be told that any new lump, nipple change or skin change needs assessment regardless of her last screening result.
Why the other options are wrong
- B
Annual mammography is for moderately increased risk, and ultrasound is not a screening tool.
- C
Annual MRI is for high-risk women (lifetime risk over about 30% or gene carriers), not an 18% risk.
- D
Clinical breast examination does not reduce mortality and is not a substitute for mammography.
- E
BreastScreen is available from 40 on request, and slightly increased risk is a reason to start, not to wait.
High-yield takeaway
One first-degree relative with breast cancer after 50 is still Category 1: BreastScreen mammography every 2 years, available from 40 and invited from 50 to 74.
Reference: Cancer Australia Familial Risk Assessment (FRA-BOC) and RACGP Guidelines for Preventive Activities in General Practice (Red Book) (2024)
Common questions
From what age can women attend BreastScreen?
From 40, on request. Women aged 50 to 74 are actively invited every two years.
Who qualifies for breast MRI screening?
Women at high risk, roughly a lifetime risk above 30% or known gene carriers, not women at slightly increased risk.
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