title: Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study.
abstract: It is expected that rapid genetic counseling and testing (RGCT) will lead to increasing numbers of breast cancer (BC) patients knowing their BRCA1/2 carrier status before primary surgery. Considering the potential impact of knowing one's status on uptake and timing of risk-reducing contralateral mastectomy (RRCM), we aimed to evaluate trends over time in RRCM, and differences between carriers identified either before (predictively) or after (diagnostically) diagnosis. We collected data from female BRCA1/2 mutation carriers diagnosed with BC between 1995 and 2009 from four Dutch university hospitals. We compared the timing of genetic testing and RRCM in relation to diagnosis in 1995-2000 versus 2001-2009 for all patients, and predictively and diagnostically tested patients separately. Of 287 patients, 219 (76%) had a diagnostic BRCA1/2 test. In this cohort, the median time from diagnosis to DNA testing decreased from 28 months for those diagnosed between 1995 and 2000 to 14 months for those diagnosed between 2001 and 2009 (p < 0.001). Similarly, over time women in this cohort underwent RRCM sooner after diagnosis (median of 77 vs. 27 months, p = 0.05). Predictively tested women who subsequently developed BC underwent an immediate RRCM significantly more often than women who had a diagnostic test (21/61, 34%, vs. 13/170, 7.6 %, p < 0.001). Knowledge of carrying a BRCA1/2 mutation when diagnosed with BC influenced decisions concerning primary surgery. Additionally, in more recent years, women who had not undergone predictive testing were more likely to undergo diagnostic DNA testing and RRCM sooner after diagnosis. This suggests the need for RGCT to guide treatment decisions.
authors.affiliation: Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, PO Box 90203, 1006 BE, Amsterdam, The Netherlands, m.wevers@umcutrecht.nl.
authors.forename: M R
authors.initials: MR
authors.lastname: Wevers
authors.forename: M K
authors.initials: MK
authors.lastname: Schmidt
authors.forename: E G
authors.initials: EG
authors.lastname: Engelhardt
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: M J
authors.initials: MJ
authors.lastname: Hooning
authors.forename: M
authors.initials: M
authors.lastname: Kriege
authors.forename: C
authors.initials: C
authors.lastname: Seynaeve
authors.forename: M
authors.initials: M
authors.lastname: Collée
authors.forename: C J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: R A E M
authors.initials: RA
authors.lastname: Tollenaar
authors.forename: L B
authors.initials: LB
authors.lastname: Koppert
authors.forename: A J
authors.initials: AJ
authors.lastname: Witkamp
authors.forename: E J T
authors.initials: EJ
authors.lastname: Rutgers
authors.forename: N K
authors.initials: NK
authors.lastname: Aaronson
authors.forename: M A
authors.initials: MA
authors.lastname: Rookus
authors.forename: M G E M
authors.initials: MG
authors.lastname: Ausems
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control* / Q000601:surgery; D015331:Cohort Studies; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000706:statistics & numerical data; D006579:Heterozygote; D006801:Humans; D008408:Mastectomy / Q000706:statistics & numerical data*; D008875:Middle Aged; D009154:Mutation; D009426:Netherlands; D012189:Retrospective Studies; D012307:Risk Factors; D013997:Time Factors; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human