Young age and pathogenic germline
The study included retrospective real-world data of young women with breast cancer before the age of 40 undergoing neoadjuvant chemotherapy. All patients were diagnosed between 2008-2019 and presented at Charité – Universitaetsmedizin Berlin. Patients with missing germline testing, pathogenic germline variants in
A total of 143 cases were included in the analysis, of which 62 (43.4%) achieved pCR. gBRCA1m was most prevalent in triple-negative patients (38/79) and less prevalent in HR+/Her2- (10/33) and Her2+ patients (2/31). Patients with gBRCA1m achieved pCR more often than patients with gBRCA1wt (58.0% vs. 35.5%). This was associated with a crude odds ratio of 2.51 (95% CI 1.24-5.08, p=0.010). The associated increase of the pCR-rate varied across clinical subtypes. gBRCA1m was associated with a significant increase of the pCR-rate in patients with HR+/Her2- subtype (60.0% vs. 8.7%, p=0.002) and a not significant increase in triple-negative patients (60.5% vs. 39.0%, p=0.056). Among Her2+ patients, both gBRCA1m patients did not achieve pCR and gBRCA1wt patients had a pCR rate of 51.7%.
Triple-negative and especially HR+/Her2- breast cancer in young women might be more chemosensitive if associated with a pathogenic germline variant in
DRKS00021459.
Charité-Universitaetsmedizin Berlin, Department of Gynecology with Breast Centre, AG Karsten-Speiser.
Has not received any funding.
J. Blohmer: Financial Interests, Personal and Institutional, Other, honoraria, AdBoard, training event funding: AstraZeneca, Daiichi Sankyo, Gilead, Lilly, MSD, Novartis, Pfizer, Roche, Seagen; Financial Interests, Personal and Institutional, Other, training event funding: BD, SonoScape, Somatex. D. Speiser: Financial Interests, Personal, Invited Speaker: Pfizer, AstraZeneca. M.M. Karsten: Financial Interests, Personal, Invited Speaker: Roche, Gilead, Sysmex. All other authors have declared no conflicts of interest.