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Case History

image A 30-year-woman has been referred following a wide local excision and axillary clearance of a 2 cm grade III invasive ductal carcinoma. The tumour shows lymphovascular invasion and 2 of 11 lymph nodes are involved. Immunohistochemistry is negative for oestrogen receptor (ER), progesterone receptor (PR) and HER-2. The patient starts adjuvant chemotherapy.

A detailed family history reveals the pedigree shown in Figure 39.1

Should the patient be referred to a clinical genetics service?

What are the implications for the management of the patient's recently diagnosed breast cancer and for her personal risk of developing further cancers?

What are the implications for the patient's family members including her sister, brother and niece?

How would the patient's management have changed if the germline BRCA1/2 mutation screen had not identified a mutation?


image Refer to the patient's pedigree as shown in Figure 39.1.


Should the patient be referred to a clinical genetics service?

image All patients presenting to an oncology clinic should have their family history recorded, including at least first- and second-degree relatives. Ideally this should also include the age of cancer diagnosis, tumour site, any multiple cancers and any Jewish ancestry (as there are three founder mutations particularly common among patients of Ashkenazi Jewish descent). It is important to remember to differentiate and separate maternal and paternal relatives. Breast cancer is common, however, so most women even with a family history of breast cancer do not fall into a high-risk category.1

The National Institute of Health and Clinical Excellence (NICE) defines three risk groups:

  • Near population risk (lifetime risk of developing breast cancer image17%)

  • Moderate risk (lifetime risk of developing breast cancer 17–30%)

  • High (lifetime risk of developing breast cancer >30%, or a greater than 20% chance of an abnormal BRCA1, BRCA2 or p53 gene in the family).

Any person judged as having a moderate or high risk of developing breast cancer should be seen by a clinical geneticist.2

On the basis of the family history provided, there is enough evidence that this patient should be referred to a clinical genetics service. Patients being considered for genetic testing should be referred to tertiary care for genetic counselling regarding their risks and options. The possible value of the test must be discussed, including the meaning of a positive and negative result. BRCA1/2 mutations account for the majority of multiple-case families with both breast and ovarian cancers, and/or male and female breast cancers. However, they account for less than a third of the inherited component in families where the only cancer is female breast cancer. Overall BRCA1/2 mutations account for less than 5% of breast cancers.

During her adjuvant ...

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