AIMS: The primary aims of the Korean @entity0 (KOHBRA) study are to estimate the prevalence of @entity6069 mutations and @entity43 among a high-risk group of @entity1 with @entity0 and their families. MATERIALS AND METHODS: The KOHBRA study is a prospective multicentre cohort identifying cases and their families. Between May 2007 and May 2010, the KOHBRA study enrolled up to 2000 subjects. All @entity1 received genetic counselling and @entity5345 genetic testing; the clinical information and blood samples for blood banking were collected. An interim analysis of the prevalence of @entity6069 mutations and @entity43 in Korean subjects was determined from the initial 975 @entity1 who presented to 33 centres. RESULTS: By April 2009, a total of 167 mutation carriers among 853 probands were identified. The prevalence of the @entity5345 mutation was as follows: 24.8% (106/428) for @entity0 @entity1 with a family history of @entity5344 ; 11.3% (24/212) for @entity1 with early-onset (<35 years) @entity0 without a family history; 22.1% (15/68) for @entity1 with @entity0 ; @entity2675 in 8.3% (1/12); and 33.4% (1/3) for @entity1 with @entity5344 . CONCLUSIONS: The results of this study suggest that the prevalence of @entity5345 mutations in Korean subjects is similar to the prevalence reported among Western cohorts. However, weak family history and non-familial early-onset of @entity0 were significant factors associated with carrying the @entity5345 mutation in Korean @entity0 @entity1 . Completion of the KOHBRA study is needed to confirm these findings.

The Korean XXXX (KOHBRA) study: protocols and interim report.

@entity43 :: ('MESH:D010051', 'Disease') :: ['ovarian cancer'] @entity1 :: ('9606', 'Species') :: ['participants', 'patients'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancer', 'bilateral breast cancer', 'hereditary breast cancer', 'Hereditary Breast Cancer'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['breast and ovarian cancer', 'breast/ovarian cancers'] @entity2675 :: ('MESH:D018567', 'Disease') :: ['male breast cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA'] @entity6069 :: ('672;675', 'Gene') :: ['BRCA1/2']
@entity0 :: (MESH:D001943,Disease) :: ['Hereditary Breast Cancer']
