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dc.contributor.authorNarod, S A
dc.contributor.authorFord, D
dc.contributor.authorDevilee, P
dc.contributor.authorBarkardottir, R B
dc.contributor.authorLynch, H T
dc.contributor.authorSmith, S A
dc.contributor.authorPonder, B A
dc.contributor.authorWeber, B L
dc.contributor.authorGarber, J E
dc.contributor.authorBirch, J M
dc.date.accessioned2011-01-05T14:15:00Z
dc.date.available2011-01-05T14:15:00Z
dc.date.issued1995-01
dc.date.submitted2011-01-05
dc.identifier.citationAm. J. Hum. Genet. 1995, 56(1):254-64en
dc.identifier.issn0002-9297
dc.identifier.pmid7825586
dc.identifier.urihttp://hdl.handle.net/2336/118669
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe 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 the 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.
dc.language.isoenen
dc.publisherUniversity of Chicago Pressen
dc.relation.urlhttp://ukpmc.ac.uk/abstract/MED/7825586en
dc.subject.meshAdulten
dc.subject.meshAge of Onseten
dc.subject.meshBRCA1 Proteinen
dc.subject.meshBreast Neoplasmsen
dc.subject.meshBreast Neoplasms, Maleen
dc.subject.meshChromosomes, Human, Pair 17en
dc.subject.meshFemaleen
dc.subject.meshGenetic Heterogeneityen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshLod Scoreen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshNeoplasm Proteinsen
dc.subject.meshNeoplasms, Multiple Primaryen
dc.subject.meshNeoplastic Syndromes, Hereditaryen
dc.subject.meshNetherlandsen
dc.subject.meshOvarian Neoplasmsen
dc.subject.meshPedigreeen
dc.subject.meshTranscription Factorsen
dc.titleAn evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortiumen
dc.typeArticleen
dc.contributor.departmentDepartment of Medicine, McGill University, Montreal, Quebec, Canada.en
dc.identifier.journalAmerican journal of human geneticsen
html.description.abstractThe 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 the 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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