8/14/2014
`
`Molecular cloning of BRCA1: a gene f... [Breast Cancer Res Treat. 1993] — PubMed - NCBI
`
`Pu b Med
`
`Y
`
`Display Settings:
`
`Abstract
`
`fireast Cancer Res Treat”; 1993 Nov,28(2):121-35.
`
`Molecular cloning of BRCA1: a gene for early onset familial breast and
`ovarian cancer.
`
`Bowcock AM.
`
`Author information
`
`fibstt’act
`
`Molecular analyses allow one to determine genetic lesions occurring early in the development of
`
`tumors. With positional cloning approaches we are searching for a gene involved in the development
`
`of early onset familial breast and ovarian cancer that maps to human chromosome 17q21 and is
`
`termed BRCfiA. This involves localizing the region genetically within families with multiply affected
`
`members, capturing the region identified by genetic analyses in YACs (yeast artificial
`
`chromosomes), converting those YACs to smaller manipulable pieces (such as cosmids), and
`
`searchicg for genes via a variety of approaches such as direct screening of cDNA libraries with
`
`genomic clones, direct selection by hybridization, "exon trapping", and CpG island rescue. Once
`
`identified, candidate genes will be screened for mutations in affected family members in whom
`
`breast cancer segregates with the locus on 17q21 . The frequency of this gene has been calculated to
`
`be 0.0033; from this the incidence of carriers, i.e. those carrying such a predisposition, is one in 150
`
`women. The isolation of BRCA1 and the elucidation of the mutations resulting in breast and ovarian
`
`cancer predisposition will allow identification of women who have inherited germ-line mutations in
`
`BRCA1. In families known to harbor a germ-line BRCA1 mutation, diagnosis of affected members
`
`will be rapid. it is possible that one will also be able to detect alterations of the second copy of this
`
`gene early in tumor development in individuals carrying a germ-line mutation. it is not yet knowa how
`
`frequently somatic BRCA1 mutations predispose to breast and ovarian carcinoma in the general
`
`female population. if, as in other genetic diseases, new germ-line mutations occur in some women
`
`and thus contribute to the development of breast cancer, it may be feasible to screen women in the
`
`general population for predisposing mutations. In addition, if acquired genetic mutations of the
`
`BRCA1 gene are involved as early events in the development of non-familial forms of the disease,
`
`early detection of possible breast carcinoma may become feasible in biopsy of breast tissue.
`
`PMEE}: 8?73065 {PubMed ~ indexed for MEDUNE}
`
`Publication Types, MeSH Terms, Grant Support
`
`http://ww.ncbi.nlm.nih.g ov/pubmed/8173065
`
`GeneDX 1017, pg. 1
`
`1/2
`
`GeneDX 1017, pg. 1
`
`

`

`8/14/2014
`
`Molecular cloning of BRCA1: a gene f... [Breast Cancer Res Treat. 1993] - PubMed — NCBI
`
`LinkOut - more resources
`
`meme Qammmm
`
`flbMed Commons home
`
`0 comments
`
`mmmmmpmgflggmm
`
`http://wwncbl .nl m.nl h.g ov/pubmed/8173065
`
`GeneDX 1017, pg. 2
`
`2/2
`
`GeneDX 1017, pg. 2
`
`