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Case history

image A 32-year-old woman presented with a 6 week history of a lump in her right breast. Her medical history consisted only of an appendectomy performed 10 years previously. She was otherwise well and had no systemic symptoms. She did not take any regular medications and had no known drug allergies.

She had a significant family history of malignant disease: her sister was diagnosed with breast cancer aged 39, a paternal aunt was diagnosed with breast cancer aged 43, and her paternal grandmother was diagnosed with ovarian cancer aged 55.

She was a non-smoker and drank fewer than 10 units of alcohol per week. She lived with her partner and 2-year-old daughter. She had one younger sister and an older sister and brother.

On physical examination the patient had a palpable mass in the right breast. There was no palpable lymphadenopathy and the rest of the examination was unremarkable.

Mammography and ultrasound imaging of the right breast revealed a suspicious 26 mm mass in the upper outer quadrant. A core biopsy confirmed a grade 3 invasive ductal carcinoma, oestrogen receptor (ER)-negative (quick score 0/8), progesterone receptor (PR)-negative (0/8) and human epidermal growth factor receptor 2 (HER2)-negative (1+ immunohistochemistry). Breast MRI confirmed unifocal disease in the right breast. There was no radiological evidence of involvement of the axillary lymph nodes.

The multidisciplinary team (MDT) recommended neoadjuvant chemotherapy, followed by surgical resection of the tumour. Fast-track genetic testing identified a mutation in the BRCA1 gene that was considered to be pathogenic.

After six cycles of neoadjuvant chemotherapy the patient had a radiological complete response. She underwent mastectomy and sentinel node biopsy. Histology revealed a pathological complete response (pCR).

What are the indications for referring this patient for BRCA1/BRCA2 mutation testing?

What is the optimum systemic therapy regimen for this patient?

What should be taken into consideration when recommending breast surgery for this patient?

What is the role of prophylactic bilateral salpingo-oophorectomy (BSO) in this patient?

What are the implications of the BRCA1 mutation finding for other family members?

What are the indications for referring this patient for BRCA1/BRCA2 mutation testing?

Approximately 5% of all breast cancers are associated with an underlying mutation in the high penetrance cancer susceptibility genes BRCA1 (chromosome 17) or BRCA2 (chromosome 13). The estimated population frequency of BRCA1/BRCA2 mutations in the UK is 1 in 500–10,000; the estimated prevalence varies between ethnic groups. BRCA1 carriers have a cumulative risk of breast cancer of 50–80% by the age of 70, and a lifetime risk of ovarian cancer of 40–60% (Figure 1.1).

Figure 1.1

Family tree of the patient. TNBC, triple-negative breast cancer.

This patient met the NICE 2013 familial breast cancer guidance conditions for referral to a specialist genetics clinic, based on her family history but also on ...

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