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

S. A. Narod, D. Ford, P. Devilee, R. B. Barkardottir, Henry 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 journalArticle

257 Citations (Scopus)

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 languageEnglish
Pages (from-to)254-264
Number of pages11
JournalAmerican Journal of Human Genetics
Volume56
Issue number1
StatePublished - 1995
Externally publishedYes

Fingerprint

Genetic Heterogeneity
Ovarian Neoplasms
Breast Neoplasms
Male Breast Neoplasms
Age of Onset
Chromosomes
Confidence Intervals
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Narod, S. A., Ford, D., Devilee, P., Barkardottir, R. B., Lynch, H. T., Smith, S. A., ... 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, Henry 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 journalArticle

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 SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. American Journal of Human Genetics. 1995;56(1):254-264.
Narod, S. A. ; Ford, D. ; Devilee, P. ; Barkardottir, R. B. ; Lynch, Henry 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.
@article{6e526581f3414e17b0897cf940a5392c,
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, {Henry 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",
year = "1995",
language = "English",
volume = "56",
pages = "254--264",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

TY - JOUR

T1 - An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

AU - Narod, S. A.

AU - Ford, D.

AU - Devilee, P.

AU - Barkardottir, R. B.

AU - Lynch, Henry 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

Y1 - 1995

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.

UR - http://www.scopus.com/inward/record.url?scp=0028885339&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028885339&partnerID=8YFLogxK

M3 - Article

VL - 56

SP - 254

EP - 264

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -