QUESTIONS UNDER STUDY: Germ-line alterations in @entity5345 and @entity2674 genes account for 30-50% of all forms of @entity5344 . Specific mutations in specific populations and ethnic groups have been identified in @entity5345 and @entity2674 . However, it is not known whether such specific mutations prevail in the Swiss population. METHODS: We started to screen @entity1 with primary @entity5344 and a strong family history of both @entity5 by sequencing the full-length coding regions of @entity5345 and @entity2674 . RESULTS: With the selection criteria used in this study we identified 19 mutations in the first 38 @entity1 screened (50%). These mutations were either defined as deleterious and resulted in a protein truncation (n = 10) or were defined as unclassified variants (n = 9). One novel truncating mutation was found in @entity2674 and two novel unclassified variants were detected in @entity5345 . These three mutations are not described in the BIC and HGMD databanks. CONCLUSIONS: We detected three unknown mutations among 38 @entity1 in a Swiss study of @entity5345 /2 mutation patterns. One of these novel mutations is clearly deleterious as it leads to protein truncation at @entity377 133 of @entity2674 .

BRCA1/2 mutations in Swiss XXXX with @entity5344 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['familial breast and ovarian cancer syndromes', 'breast and ovarian cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancers'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity377 :: ('CHEBI:36976', 'Chemical') :: ['nucleotide']
@entity1 :: (9606,Species) :: ['patients']
