PURPOSE: To provide practical considerations for diagnosing, counseling, and managing @entity1 at high risk for @entity0 . DESIGN: We have studied 98 extended @entity5344 (HBOC) families with @entity6069 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University's @entity4310 family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report. RESULTS: Many obstacles were identified in diagnosis, counseling, and managing @entity1 at high risk for @entity0 /HBOC. These obstacles were early noncancer @entity204 of key relatives, perception of insurance or employment discrimination, fear, @entity148 , apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the @entity5 family history were identified. CONCLUSION: When clinical gene testing emerged for @entity5345 and @entity2674 , little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk @entity1 and families to genetic counseling can greatly enhance the care of the population at the highest risk for @entity5 . However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of @entity0 , ovary, or several integrally associated @entity5 is obtained.

XXXX at the bedside: role of the medical oncologist.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity0 :: ('MESH:D001943', 'Disease') :: ['hereditary breast cancer', 'cancer of the breast', 'HBC'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['hereditary breast cancer (HBC)/hereditary breast-ovarian cancer'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers', 'cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity6069 :: ('672;675', 'Gene') :: ['BRCA1/2'] @entity148 :: ('MESH:D001008', 'Disease') :: ['anxiety'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['hereditary cancer'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death']
@entity5344 :: (MESH:D061325,Disease) :: ['Hereditary breast-ovarian cancer']
