Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer

摘要

Background: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group.Material and methods: Between 1993 and 2013, 231 women who were 35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skane University Hospital in Lund, Sweden. Self-reported and registry-reported information regarding first-degree family history of cancer was collected together with information regarding tumor characteristics.Results: Almost perfect agreement was observed between self-reported and registry-reported information regarding first-degree family history of BC (=0.92) and OvC (=0.86). Lesser agreement was observed between reports regarding family history of other types of cancer (=0.51). Mutation screening revealed pathogenic germline mutations in 30.4%; 18.8% in BRCA1, 7.1% in BRCA2 and 4.5% in other genes. Compared with other mutation groups, BRCA1 mutation carriers were more likely to be diagnosed with high-grade, ER-, PR- and triple-negative tumors.Conclusions: Our results demonstrate that physicians and genetic counselors can rely on self-reported information regarding BC and OvC in first-degree relatives. However, self-reported information regarding other types of cancer is not communicated as effectively, and there should be more focus on retrieving the correct information regarding family history of all tumor types. Furthermore, we observed that even though all BC patients fulfilled the criteria for genetic counseling and testing, a large number of patients diagnosed at 35 years of age did not receive genetic counseling at the Oncogenetic Clinic. This finding merits further elucidation.