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 |
|---|---|
| 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 |
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All Science Journal Classification (ASJC) codes
- Genetics
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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 journal › Article
}
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
C2 - 7825586
AN - SCOPUS:0028885339
VL - 56
SP - 254
EP - 264
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 1
ER -