title: Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
abstract: OBJECTIVE
  BRCA mutation carriers can benefit from targeted clinical interventions. On the other hand, families with evident aggregation of breast cancer (BC) cases and a BRCA-negative genetic test can still be considered as of elevated risk, since the underlying genetic factor remains unidentified. In the present study, we compared clinical and demographic characteristics between BRCA1 mutation carriers (BRCA1mut) and non-carriers (non-BRCA1) in a Greek group of BC patients (n=321).
  
  
  METHODS
  Data were collected and analyzed from 321 women with BC, with 131 patients screened for pathogenic mutations in the high-penetrant genes BRCA1 and BRCA2. Collected data included demographics, pedigrees, tumor histopathology and immunohistochemistry findings.
  
  
  RESULTS
  In BRCA1mut patients, their mothers and grand- mothers were diagnosed at a younger age compared to non-BRCA1-carriers. Additionally, BRCA1mut patients were diagnosed with mainly estrogen receptor (ER) negative (p<0.001), Her-2 negative (p<0.05) and triple negative (p<0.01) tumors. The youngest generation was diagnosed with familial breast cancer (FBC) 9.7 years earlier than their mothers (p<0.001). Age at BC diagnosis negatively correlated with the nuclear grade of breast tumors (r=-0.3, p<0.05). Among parous individuals, the number of full-term pregnancies significantly correlated with the age at BC onset (r=0.19, p<0.05).
  
  
  CONCLUSIONS
  Despite their similarities, FBC cases with identified BRCA1 mutations exhibit a clearly distinct profile. We have identified an anticipation effect in FBC patients, with significantly reduced age at diagnosis in younger generations. Increased parity seems to prevent early BC onset. This is the first study comparing clinical and demographic characteristics of FBC BRCA1mut and non-carriers in a Greek cohort.
authors.affiliation: Molecular Diagnostics Laboratory, INRaSTES, National Centre for Scientific Research "Demokritos", Athens, Greece.
authors.forename: Olga
authors.initials: O
authors.lastname: Triantafyllidou
authors.forename: Ioannis S
authors.initials: IS
authors.lastname: Vlachos
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Apostolou
authors.forename: Irene
authors.initials: I
authors.lastname: Konstantopoulou
authors.forename: Anastasios
authors.initials: A
authors.lastname: Grivas
authors.forename: Christos
authors.initials: C
authors.lastname: Panopoulos
authors.forename: Constantine
authors.initials: C
authors.lastname: Dimitrakakis
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kassanos
authors.forename: Constantine
authors.initials: C
authors.lastname: Loghis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Bramis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Vlahos
authors.forename: Drakoulis
authors.initials: D
authors.lastname: Yannoukakos
authors.forename: Florentia
authors.initials: F
authors.lastname: Fostira
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008875:Middle Aged; D009154:Mutation