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Study results from BRCA2 mutation carriers


Researchers have published findings about estrogen receptor status, treatment and breast cancer prognosis in Icelandic BRCA2 mutation carriers.

The impact of an inherited BRCA2 mutation on the prognosis of women with breast cancer has not been well documented. The researchers studied the effects of estrogen receptor (ER) status, other prognostic factors and treatments on survival in a large cohort of BRCA2 mutation carriers.

The researchers from the Icelandic Cancer Society and the University of Iceland identified 285 breast cancer patients with a 999del5 BRCA2 mutation and matched them with 570 non-carrier patients. Clinical information was extracted from patient charts and pathology records and supplemented by evaluation of tumor grade and ER status using archived tissue specimens. Univariate and multivariate hazard ratios (HR) were estimated for breast cancer-specific survival using Cox regression. The effects of various therapies were studied in patients treated from 1980 to 2012.


Among mutation carriers, positive ER status was associated with higher risk of death than negative ER status (HR=1.94; 95% CI=1.22-3.07, P=0.005). The reverse association was seen for non-carriers (HR=0.71; 95% CI: 0.51-0.97; P=0.03). Among BRCA2 carriers, ER-positive status is an adverse prognostic factor. BRCA2 carrier status should be known at the time when treatment decisions are made.

Their findings were published in the British Journal of Cancer in August 2016.