Case-based quiz: 42-year-old woman with 3 relatives with breast cancer
A 42-year-old lady tells you that three of her relatives have had breast cancer. She wants to know if she can be tested for all the gene mutations associated with breast cancer. Do you know the referral guidance?
A 42-year-old lady tells you, very worried, that her mother, aged 76, has recently been diagnosed with breast cancer. Her sister died from metastatic breast cancer aged 48 years and her maternal aunt was diagnosed with breast cancer last year, aged 58.
She wants to know if she can be tested for all the gene mutations associated with breast cancer.
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- Familial breast cancer: Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer; NICE CG164, 2013, updated 2019
- Breast cancer – managing family history. Clinical Knowledge Summaries, 2018
- Gadzicki D, Evans DG, Harris H, et al. Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet. 2011 Jun;2(2):53-69. PMID: 22109790