PURPOSE: To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and @entity5 incidence in a cohort of individuals at hereditary risk for @entity5344 . @entity1 AND METHODS: Two hundred fifty-one individuals with @entity5345 mutations were identified at a single comprehensive @entity5 center from @entity4456 , 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. @entity1 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 @entity5 surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or @entity6887 were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have @entity0 . Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one @entity43 and one early-stage @entity6887 were found. Radiographic or @entity5 marker-based screening detected six @entity0 , five of which were stage 0/I, one early-stage primary @entity3906 , and three stage @entity43 . Six additional @entity0 were detected by physical examination between radiographic screening intervals; four of these six @entity5 were stage I. No stage III or stage IV @entity5 were detected after genetic testing. CONCLUSION: 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 @entity5 in @entity1 with @entity5345 and @entity2674 mutations.

Outcome of preventive surgery and screening for XXXX in @entity5345 mutation carriers.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'PATIENTS'] @entity43 :: ('MESH:D010051', 'Disease') :: ['early-stage ovarian neoplasm', 'I or II ovarian cancers'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['breast and ovarian cancer'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancers', 'occult intraductal breast cancers'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'tumors', 'cancer', 'malignancies'] @entity5345 :: ('672', 'Gene') :: ['BRCA1', 'BRCA'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity3906 :: ('MESH:D010534', 'Disease') :: ['peritoneal cancer'] @entity6887 :: ('MESH:D005185', 'Disease') :: ['fallopian tube cancers', 'fallopian tube neoplasm'] @entity4456 :: ('5580', 'Gene') :: ['May 1']
@entity5344 :: (MESH:D061325,Disease) :: ['breast and ovarian cancer']
