Prophylactic mastectomy in BRCA1/2 mutation carriers and women at risk of hereditary breast cancer: long-term experiences at the Rotterdam Family Cancer Clinic.
BACKGROUND
BRCA1/2 mutation carriers and women from a hereditary breast(/ovarian) cancer family have a highly increased risk of developing breast cancer (BC). Prophylactic mastectomy (PM) results in the greatest BC risk reduction. Long-term data on the efficacy and sequels of PM are scarce.


METHODS
From 358 high-risk women (including 236 BRCA1/2 carriers) undergoing PM between 1994 and 2004, relevant data on the occurrence of BC in relation to PM, complications in relation to breast reconstruction (BR), mutation status, age at PM and preoperative imaging examination results were extracted from the medical records, and analyzed separately for women without (unaffected, n = 177) and with a BC history (affected, n = 181).


RESULTS
No primary BCs occurred after PM (median follow-up 4.5 years). In one previously unaffected woman, metastatic BC was detected almost 4 years after PM (primary BC not found). Median age at PM was younger in unaffected women (P < .001), affected women more frequently were 50% risk carriers (P < .001). Unexpected (pre)malignant changes at PM were found in 3% of the patients (in 5 affected, and 5 unaffected women, respectively). In 49.6% of the women opting for BR one or more complications were registered, totaling 215 complications, leading to 153 surgical interventions (71%). Complications were mainly related to cosmetic outcome (36%) and capsular formation (24%).


CONCLUSIONS
The risk of developing a primary BC after PM remains low after longer follow-up. Preoperative imaging and careful histological examination is warranted because of potential unexpected (pre)malignant findings. The high complication rate after breast reconstruction mainly concerns cosmetic issues.
Heemskerk-Gerritsen
Bernadette A M
BA
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC-Daniel den Hoed Cancer Center, Rotterdam, The Netherlands.
Brekelmans
Cecile T M
CT
Menke-Pluymers
Marian B E
MB
van Geel
Albert N
AN
Tilanus-Linthorst
Madeleine M A
MM
Bartels
Carina C M
CC
Tan
Murly
M
Meijers-Heijboer
Hanne E J
HE
Klijn
Jan G M
JG
Seynaeve
Caroline
C
D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery*; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008137:Longitudinal Studies; D016462:Mammaplasty; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D009426:Netherlands / Q000453:epidemiology; D010051:Ovarian Neoplasms / Q000235:genetics / Q000601:surgery; D011183:Postoperative Complications / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D011446:Prospective Studies; D012189:Retrospective Studies; D012307:Risk Factors; D016896:Treatment Outcome
D019313:BRCA1 Protein; D024682:BRCA2 Protein