title: Clinical and pathological features of BRCA1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients.
abstract: Thus far, studies investigating the differences in tumour characteristics between breast cancer in BRCA1-carriers and other patients, have focused on highly selected groups of patients, potentially limiting the conclusions that can be drawn. Previously, we had identified 10 patients with BRCA1 germline mutations in a hospital-based series of 642 breast cancer patients not selected for age or family history. The aim of this analysis is to investigate the clinical and pathological features of these BRCA1 associated carcinomas as compared to other breast cancers in this representative sample. Tumours from patients with BRCA1 germline mutations (n = 10) were compared to an age-matched sample of other patients (n = 50) from the same cohort. The following characteristics were considered: axillary nodal status and tumour size, histologic parameters (tumour type, histologic grade, mitotic rate, tubule formation, nuclear grade, CIS and lymphangio invasion) and expression of several proteins (oestrogen and progesterone receptors, cyclin D1, p53, HER2/neu, E-cadherin). In BRCA1 associated tumours receptors for oestrogen and progesterone were expressed less frequently (respectively, P = 0.001 and P = 0.002) than in controls, which is in line with findings from other studies. Other differences were also in accordance with findings from other studies, although not statistically significant. We conclude that the features of BRCA1 associated tumours detected in a hospital-based series of breast cancer patients not selected for family history of age at diagnosis are similar to tumours in cases selected for family history or age at diagnosis.
authors.affiliation: Department of Medical Decision Making, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: G H
authors.initials: GH
authors.lastname: de Bock
authors.forename: R A
authors.initials: RA
authors.lastname: Tollenaar
authors.forename: H
authors.initials: H
authors.lastname: Papelard
authors.forename: C J
authors.initials: CJ
authors.lastname: Cornelisse
authors.forename: P
authors.initials: P
authors.lastname: Devilee
authors.forename: M J
authors.initials: MJ
authors.lastname: van de Vijver
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology*; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology*; D015331:Cohort Studies; D004273:DNA, Neoplasm; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006760:Hospitalization; D006801:Humans; D008207:Lymphatic Metastasis; D009361:Neoplasm Invasiveness; D016133:Polymerase Chain Reaction; D011960:Receptors, Estrogen / Q000032:analysis / Q000096:biosynthesis; D011980:Receptors, Progesterone / Q000032:analysis / Q000096:biosynthesis
chemical_list: D004273:DNA, Neoplasm; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone