Survival and recurrence after breast cancer in BRCA1/2 mutation carriers.
BACKGROUND
Genetic mutation is responsible for approximately 10% of breast cancers. The purpose of this study was to compare breast cancer survival and recurrence rates between BRCA1/2 mutation carriers and noncarriers.


METHODS
Using the Columbia Presbyterian breast cancer database, we collected the tissue blocks of all patients younger than 65 years of age and of Jewish descent. The patients were contacted and the data updated. DNA was extracted from the tissue blocks and tested for the common mutations. The results of the genetic mutation and updated database were anonymized and merged. The survival and recurrence rates were compared between mutation carriers and noncarriers.


RESULTS
A total of 739 breast cancer cases in 715 patients were identified. We were able to test 487 patients. We identified 30 BRCA1 and 21 BRCA2 mutation carriers, for an incidence of 10.36%. The median follow-up for the patients tested was 50 months. BRCA1 patients more frequently had estrogen- and progesterone-negative tumors and had a higher incidence of positive nodes. BRCA1 patients received chemotherapy more frequently. The incidence of in situ disease was similar for mutation and non-mutation carriers. BRCA1/2 mutation carriers had a higher incidence of bilateral disease. There was no difference in 5- or 10-year overall and breast cancer-specific survival between mutation and non-mutation carriers.


CONCLUSIONS
Breast cancer patients with BRCA1/2 mutations have a similar outcome as non-mutation carriers.
El-Tamer
Mahmoud
M
Department of Breast Surgery, Columbia-Presbyterian Comprehensive Breast Center, New York, New York, USA. me 180@columbia.edu
Russo
Donna
D
Troxel
Andrea
A
Bernardino
Lourdes P
LP
Mazziotta
Robert
R
Estabrook
Alison
A
Ditkoff
Beth-Ann
BA
Schnabel
Freya
F
Mansukhani
Mahesh
M
D000328:Adult; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics* / Q000401:mortality; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007585:Jews / Q000706:statistics & numerical data; D008875:Middle Aged; D015999:Multivariate Analysis; D009364:Neoplasm Recurrence, Local; D012044:Regression Analysis; D015996:Survival Rate; D014481:United States / Q000453:epidemiology