An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

S. A. Narod; D. Ford; P. Devilee; R. B. Barkardottir; H. T. Lynch; S. A. Smith; B. A.J. Ponder; B. L. Weber; J. E. Garber; J. M. Birch; R. S. Cornelis; D. P. Kelsell; N. K. Spurr; E. Smyth; N. Haites; H. Sobol; Y. J. Bignon; J. Chang-Claude; U. Hamann

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

S. A. Narod, D. Ford, P. Devilee, R. B. Barkardottir, H. T. Lynch, S. A. Smith, B. A.J. Ponder, B. L. Weber, J. E. Garber, J. M. Birch, R. S. Cornelis, D. P. Kelsell, N. K. Spurr, E. Smyth, N. Haites, H. Sobol, Y. J. Bignon, J. Chang-Claude, U. Hamann

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

259 Scopus citations

Abstract

The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.

Original language	English (US)
Pages (from-to)	254-264
Number of pages	11
Journal	American journal of human genetics
Volume	56
Issue number	1
State	Published - 1995
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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Narod, S. A., Ford, D., Devilee, P., Barkardottir, R. B., Lynch, H. T., Smith, S. A., Ponder, B. A. J., Weber, B. L., Garber, J. E., Birch, J. M., Cornelis, R. S., Kelsell, D. P., Spurr, N. K., Smyth, E., Haites, N., Sobol, H., Bignon, Y. J., Chang-Claude, J., & Hamann, U. (1995). An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. American journal of human genetics, 56(1), 254-264.

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. / Narod, S. A.; Ford, D.; Devilee, P.; Barkardottir, R. B.; Lynch, H. T.; Smith, S. A.; Ponder, B. A.J.; Weber, B. L.; Garber, J. E.; Birch, J. M.; Cornelis, R. S.; Kelsell, D. P.; Spurr, N. K.; Smyth, E.; Haites, N.; Sobol, H.; Bignon, Y. J.; Chang-Claude, J.; Hamann, U.

In: American journal of human genetics, Vol. 56, No. 1, 1995, p. 254-264.

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

Narod, SA, Ford, D, Devilee, P, Barkardottir, RB, Lynch, HT, Smith, SA, Ponder, BAJ, Weber, BL, Garber, JE, Birch, JM, Cornelis, RS, Kelsell, DP, Spurr, NK, Smyth, E, Haites, N, Sobol, H, Bignon, YJ, Chang-Claude, J & Hamann, U 1995, 'An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families', American journal of human genetics, vol. 56, no. 1, pp. 254-264.

Narod, S. A. ; Ford, D. ; Devilee, P. ; Barkardottir, R. B. ; Lynch, H. T. ; Smith, S. A. ; Ponder, B. A.J. ; Weber, B. L. ; Garber, J. E. ; Birch, J. M. ; Cornelis, R. S. ; Kelsell, D. P. ; Spurr, N. K. ; Smyth, E. ; Haites, N. ; Sobol, H. ; Bignon, Y. J. ; Chang-Claude, J. ; Hamann, U. / An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. In: American journal of human genetics. 1995 ; Vol. 56, No. 1. pp. 254-264.

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title = "An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families",

abstract = "The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.",

author = "Narod, {S. A.} and D. Ford and P. Devilee and Barkardottir, {R. B.} and Lynch, {H. T.} and Smith, {S. A.} and Ponder, {B. A.J.} and Weber, {B. L.} and Garber, {J. E.} and Birch, {J. M.} and Cornelis, {R. S.} and Kelsell, {D. P.} and Spurr, {N. K.} and E. Smyth and N. Haites and H. Sobol and Bignon, {Y. J.} and J. Chang-Claude and U. Hamann",

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AU - Narod, S. A.

AU - Ford, D.

AU - Devilee, P.

AU - Barkardottir, R. B.

AU - Lynch, H. T.

AU - Smith, S. A.

AU - Ponder, B. A.J.

AU - Weber, B. L.

AU - Garber, J. E.

AU - Birch, J. M.

AU - Cornelis, R. S.

AU - Kelsell, D. P.

AU - Spurr, N. K.

AU - Smyth, E.

AU - Haites, N.

AU - Sobol, H.

AU - Bignon, Y. J.

AU - Chang-Claude, J.

AU - Hamann, U.

PY - 1995

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N2 - The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.

AB - The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.

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An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

Abstract

All Science Journal Classification (ASJC) codes

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