Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases

摘要: Abstract Aim of the study Results on tumour characteristics and survival hereditary breast cancer (BC), especially BRCA2-associated BC, are inconclusive. The prognostic impact classical treatment factors in BC is insufficiently known. Methods We selected 103 BRCA2-, 223 BRCA1- 311 non-BRCA1/2 patients (diagnosis 1980–2004) from Rotterdam Family Cancer Clinic. To correct for longevity bias, analyses were also performed while excluding index undergoing DNA testing ⩾2 years after diagnosis. As a comparison group, 759 sporadic comparable age at year diagnosis selected. compared characteristics, occurrence ipsilateral recurrence (LRR) contralateral (CBC) as well distant disease-free (DDFS), BC-specific (BCSS) overall (OS) between these groups. By multivariate modelling, was investigated separately BC. confirmed presence particular BRCA1-phenotype. In contrast, similar to those with exception high risk CBC (3.1% per year) oestrogen-receptor (ER)-positivity (83%). No significant differences other subgroups found respect LRR, DDFS, BCSS OS. Independent (combining three subgroups) stage, adjuvant chemotherapy, histologic grade, ER status prophylactic (salpingo-)oophorectomy. Conclusions Apart frequent positive ER-status, did not markedly differ or Our observation that size nodal implies strategy use proxy ultimate mortality appears be valid this specific group patients.