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Paper of the month: March 2018

30.03.2018

An analysis of 802 women with triple-negative breast cancer (TNBC) from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) and GeparSixto (GBG 66) trial that investigated the association between the age at TNBC diagnosis and the presence of pathogenic germline BRCA1/2 mutations has been published in the BMC Cancer.

Germline BRCA1/2 (gBRCA) mutations are found in about 5% of all breast cancers. A higher mutation rate is observed in TNBC patients depending on age of onset and the presence of a family history of breast and ovarian cancer. However, it is not clear up to which age women with TNBC, who do not have a family history of breast and ovarian cancer, should be tested for gBRCA mutations. Therefore, the study aimed to determine the age-dependent prevalence of gBRCA mutations in these women. The results demonstrated a significantly increased mutation frequency in younger women (below 50 years) and suggested that women with TNBC diagnosed before the age of 50 years and without a family history of breast and ovarian cancer should be tested for gBRCA mutations.

Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC Cancer. 2018;18:265

Link in PubMed

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