Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis

Simon A. Gayther; Patricia Harrington; Paul Russell; Galina Kharkevich; R. F. Garkavtseva; Bruce A.J. Ponder; D. T. Bishop; J. Carmichael; W. P. Collins; D. Cox; D. Easton; G. R. Fraser; D. G. Lowe; J. Mackay; J. H. Shepherd; C. M. Steel

Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis

Simon A. Gayther, Patricia Harrington, Paul Russell, Galina Kharkevich, R. F. Garkavtseva, Bruce A.J. Ponder, D. T. Bishop, J. Carmichael, W. P. Collins, D. Cox, D. Easton, G. R. Fraser, D. G. Lowe, J. Mackay, J. H. Shepherd, C. M. Steel

Research output: Contribution to journal › Article › peer-review

83 Scopus citations

Abstract

Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer. Since the isolation of BRCA1 last year, >65 distinct mutations scattered throughout the coding region have been detected, making analysis of the gene time consuming and technically challenging. We have developed a multiplex heteroduplex analysis that is designed to analyze one- quarter of the coding sequence in a single-step screening procedure and that will detect ~50% of all BRCA1 mutations so far reported in breast/ovarian cancer families. We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families.

Original language	English (US)
Pages (from-to)	451-456
Number of pages	6
Journal	American Journal of Human Genetics
Volume	58
Issue number	3
State	Published - 1996
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

Gayther, S. A., Harrington, P., Russell, P., Kharkevich, G., Garkavtseva, R. F., Ponder, B. A. J., Bishop, D. T., Carmichael, J., Collins, W. P., Cox, D., Easton, D., Fraser, G. R., Lowe, D. G., Mackay, J., Shepherd, J. H., & Steel, C. M. (1996). Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. American Journal of Human Genetics, 58(3), 451-456.

Gayther, SA, Harrington, P, Russell, P, Kharkevich, G, Garkavtseva, RF, Ponder, BAJ, Bishop, DT, Carmichael, J, Collins, WP, Cox, D, Easton, D, Fraser, GR, Lowe, DG, Mackay, J, Shepherd, JH & Steel, CM 1996, 'Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis', American Journal of Human Genetics, vol. 58, no. 3, pp. 451-456.

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title = "Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis",

abstract = "Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer. Since the isolation of BRCA1 last year, >65 distinct mutations scattered throughout the coding region have been detected, making analysis of the gene time consuming and technically challenging. We have developed a multiplex heteroduplex analysis that is designed to analyze one- quarter of the coding sequence in a single-step screening procedure and that will detect ~50% of all BRCA1 mutations so far reported in breast/ovarian cancer families. We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families.",

author = "Gayther, {Simon A.} and Patricia Harrington and Paul Russell and Galina Kharkevich and Garkavtseva, {R. F.} and Ponder, {Bruce A.J.} and Bishop, {D. T.} and J. Carmichael and Collins, {W. P.} and D. Cox and D. Easton and Fraser, {G. R.} and Lowe, {D. G.} and J. Mackay and Shepherd, {J. H.} and Steel, {C. M.}",

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AU - Gayther, Simon A.

AU - Harrington, Patricia

AU - Russell, Paul

AU - Kharkevich, Galina

AU - Garkavtseva, R. F.

AU - Ponder, Bruce A.J.

AU - Bishop, D. T.

AU - Carmichael, J.

AU - Collins, W. P.

AU - Cox, D.

AU - Easton, D.

AU - Fraser, G. R.

AU - Lowe, D. G.

AU - Mackay, J.

AU - Shepherd, J. H.

AU - Steel, C. M.

PY - 1996

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AB - Germ-line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early-onset breast and/or ovarian cancer. Since the isolation of BRCA1 last year, >65 distinct mutations scattered throughout the coding region have been detected, making analysis of the gene time consuming and technically challenging. We have developed a multiplex heteroduplex analysis that is designed to analyze one- quarter of the coding sequence in a single-step screening procedure and that will detect ~50% of all BRCA1 mutations so far reported in breast/ovarian cancer families. We have used this technique to analyze BRCA1 in 162 families with a history of breast and/or ovarian cancer and identified 12 distinct mutations in 35 families.

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Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis

Abstract

ASJC Scopus subject areas

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