Germline mutations in the @entity5345 and @entity2674 genes are required for the initiation of the development of @entity5344 , which represent 10-15% of all cases. The course of the disease varies from case to case that can be due even to the possibility of multiple genetic changes including inactivation of other @entity5 suppressor genes-- @entity876 and @entity1412 genes or activation of oncogenes, especially @entity984 oncogene. The combination of these changes results in an early expression of the broad variety of @entity5 . The analyzed proband (II-5) comes from a high-risk family, in which various types of @entity5 were observed. The novel @entity5345 mutation in exon 11 ( @entity70536 ) was detected by SSCP, HDA techniques and confirmed by automatic sequencing. The same deletion was observed in DNA sample of her first daughter (III-1), but DNA of her second one was without any mutational changes (III-2). Due to the occurrence of different types of @entity5 in this family, the incidental mutations in the @entity1412 ; resp. @entity876 @entity5 supressor genes and @entity984 oncogene were searched as well. Any mutation was found after sequencing of SSCP interesting exons of these genes. The reasons for such strong malignant manifestation in this high risk family are discussed.

The novel exon 11 mutation of XXXX gene in a high-risk family.

@entity5344 :: ('MESH:D061325', 'Disease') :: ['hereditary forms of breast and ovarian cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'cancer', 'malignancies'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity984 :: ('3845', 'Gene') :: ['K-ras'] @entity70536 :: ('c|DEL|2057|CAGTGAAGAG', 'DNAMutation') :: ['2057delCAGTGAAGAG'] @entity876 :: ('7157', 'Gene') :: ['TP53'] @entity1412 :: ('MESH:D011125', 'Disease') :: ['APC']
@entity5345 :: (672,Gene) :: ['BRCA1']
