Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations
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Agnarsson, B A
Barkardottir, R B
Kallioniemi, O P
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CitationCancer Res. 1997, 57(7):1222-7
AbstractBRCA1 and BRCA2 mutations confer increased risk for development of breast cancer, but a number of additional, currently largely unknown, somatic genetic defects must also accumulate in the breast epithelial cells before malignancy develops. To evaluate the nature of these additional somatic genetic defects, we performed a genome-wide survey by comparative genomic hybridization on breast cancers from 21 BRCA1 mutation carriers, 15 BRCA2 mutation carriers, and 55 unselected controls. The total number of genetic changes was almost two times higher in tumors from both BRCA1 and BRCA2 mutation carriers than in the control group. In BRCA1 tumors, losses of 5q (86%), 4q (81%), 4p (64%), 2q (40%), and 12q (40%) were significantly more common than in the control group (7-13%). BRCA2 tumors were characterized by a higher frequency of 13q (73%) and 6q (60%) losses and gains of 17q22-q24 (87%) and 20q13 (60%) as compared to the prevalence of these changes in the control group (12-18%). In conclusion, accumulation of somatic genetic changes during tumor progression may follow a unique pathway in individuals genetically predisposed to cancer, especially by the BRCA1 gene. Activation or loss of genes in the affected chromosomal regions may be selected for during tumor progression in cells lacking functional BRCA1 or BRCA2. Identification of such genes could provide targets for therapeutic intervention and early diagnosis.
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- BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy.
- Authors: Ottini L, Masala G, D'Amico C, Mancini B, Saieva C, Aceto G, Gestri D, Vezzosi V, Falchetti M, De Marco M, Paglierani M, Cama A, Bianchi S, Mariani-Costantini R, Palli D
- Issue date: 2003 Jan 15
- High incidence of loss of heterozygosity in breast tumors from carriers of the BRCA2 999del5 mutation.
- Authors: Ingvarsson S, Geirsdottir EK, Johannesdottir G, Sigbjörnsdóttir BI, Eiriksdottir G, Ragnarsson G, Agnarsson BA, Gudmundsson J, Jonasson JG, Sigurdsson A, Egilsson V, Barkardottir RB
- Issue date: 1998 Oct 1
- Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
- Authors: Steinmann D, Bremer M, Rades D, Skawran B, Siebrands C, Karstens JH, Dörk T
- Issue date: 2001 Sep 14
- The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate Cancer Study Collaborators.
- Authors: Gayther SA, de Foy KA, Harrington P, Pharoah P, Dunsmuir WD, Edwards SM, Gillett C, Ardern-Jones A, Dearnaley DP, Easton DF, Ford D, Shearer RJ, Kirby RS, Dowe AL, Kelly J, Stratton MR, Ponder BA, Barnes D, Eeles RA
- Issue date: 2000 Aug 15
- Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.
- Authors: Jönsson G, Naylor TL, Vallon-Christersson J, Staaf J, Huang J, Ward MR, Greshock JD, Luts L, Olsson H, Rahman N, Stratton M, Ringnér M, Borg A, Weber BL
- Issue date: 2005 Sep 1