Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers.
OBJECTIVE
To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer.


METHODS
Two hundred fifty-one individuals with BRCA mutations were identified at a single comprehensive cancer center from May 1, 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6 to 66.0 months) using standardized questionnaires, chart reviews, and contact with primary physicians.


RESULTS
Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm and one early-stage fallopian tube neoplasm were found. Radiographic or tumor marker-based screening detected six breast cancers, five of which were stage 0/I, one early-stage primary peritoneal cancer, and three stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; four of these six tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing.


CONCLUSIONS
This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations.
Scheuer
Lauren
L
Clinical Genetics, Breast Cancer Medicine, and Developmental Chemotherapy Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New york, NY 10021, USA.
Kauff
Noah
N
Robson
Mark
M
Kelly
Bridget
B
Barakat
Richard
R
Satagopan
Jaya
J
Ellis
Nathan
N
Hensley
Martee
M
Boyd
Jeff
J
Borgen
Patrick
P
Norton
Larry
L
Offit
Kenneth
K
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D005185:Fallopian Tube Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D010052:Ovariectomy; D011446:Prospective Studies