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Deborah F. Nacer, Johan Vallon-Christersson, Hans Ehrencrona, Anders Kvist, Åke Borg, Johan Staaf (Oncology, Clinical Sciences Lund, Lund University; Genetics and Pathology, Laboratory Medicine, Region Skåne; Clinical Genetics, Laboratory Medicine, Lund University; all are Lund, Sweden)
Breast cancer (BC) is a molecularly heterogeneous disease and up to 10% of cases have a hereditary origin, i.e. are caused by alterations in key predisposition genes. Genetic predisposition influences disease onset and progression, which is why clinical germline screening of patients can be performed. We investigated if or how screened patients from a Swedish initiative with 6,660 BC patients differed from non-screened on a molecular level. The screened group (n=924, 14%) was enriched for tumors deemed to have worse prognosis (those of the clinically relevant triple negative BC or of the Basal PAM50 molecular subtype), and patients had higher risk of recurrence. Screened patients had generally more proliferative tumors of higher grades but showed better overall survival, which could have been influenced by their younger age. Of the screened patients, 189 (20%) showed variants in at least one of the genes analyzed, mostly in BRCA1, BRCA2, and CHEK2. Germline screening is important for the clinical management of high-risk patients and understanding the biology of screened patients may aid in further refining screening criteria and risk assessments.