Journal ArticleDOI
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA
Jacques Simard,Jean Feunteun,Gilbert M. Lenoir,Patricia N. Tonin,Thlerry Normand,Anne Vivler,Dana Lasko,Kenneth Morgan,Kenneth Morgan,Guy A. Rouleau,Guy A. Rouleau,Henry T. Lynch,Femand Labrie,Steven A. Narod +13 more
TLDR
Mutations in the EDH17B2 gene do not appear to be responsible for the hereditary breast-ovarian cancer syndrome, and single meiotic crossovers in affected women suggest that BRCA1 is flanked by the loci RARA and D17S78.Abstract:
A susceptibility gene for hereditary breast-ovarian cancer, BRCA1, has been assigned by linkage analysis to chromosome 17q21. Candidate genes in this region include EDH17B2, which encodes estradiol 17 beta-hydroxysteroid dehydrogenase II (17 beta-HSD II), and RARA, the gene for retinoic acid receptor alpha. We have typed 22 breast and breast-ovarian cancer families with eight polymorphisms from the chromosome 17q12-21 region, including two in the EDH17B2 gene. Genetic recombination with the breast cancer trait excludes RARA from further consideration as a candidate gene for BRCA1. Both BRCA1 and EDH17B2 map to a 6 cM interval (between THRA1 and D17S579) and no recombination was observed between the two genes. However, direct sequencing of overlapping PCR products containing the entire EDH17B2 gene in four unrelated affected women did not uncover any sequence variation, other than previously described polymorphisms. Mutations in the EDH17B2 gene, therefore do not appear to be responsible for the hereditary breast-ovarian cancer syndrome. Single meiotic crossovers in affected women suggest that BRCA1 is flanked by the loci RARA and D17S78.read more
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Journal ArticleDOI
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Yoshio Miki,Jeff Swensen,Donna M Shattuck-Eidens,P. Andrew Futreal,Keith D Harshman,Sean V. Tavtigian,Qingyun Liu,Charles Cochran,L. Michelle Bennett,Wei Ding,Russell Bell,Judith Rosenthal,Charles E. Hussey,Thanh Tran,Melody McClure,Cheryl Frye,Tom Hattier,Robert Phelps,Astrid Haugen-Strano,Harold Katcher,Kazuko Yakumo,Zahra Gholami,Daniel Shaffer,Steven Stone,Steven Bayer,Christian Wray,Robert Bogden,Priya Dayananth,John R. Ward,Patricia N. Tonin,Steven A. Narod,Pam K. Bristow,Frank H. Norris,Leah M. Helvering,Paul Morrison,Paul Robert Rosteck,Mei Lai,J. Carl Barrett,Cathryn M. Lewis,Susan L. Neuhausen,Lisa A. Cannon-Albright,David E. Goldgar,Roger W. Wiseman,Alexander Kamb,Mark H. Skolnick +44 more
TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Journal ArticleDOI
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes.
Lude Franke,Harm van Bakel,Like Fokkens,Edwin D. de Jong,Michael Egmont-Petersen,Cisca Wijmenga +5 more
TL;DR: A functional human gene network is developed that integrates information on genes and the functional relationships between genes, based on data from the Kyoto Encyclopedia of Genes and Genomes, which suggests that this method can significantly reduce the cost and effort of pinpointing true disease genes in analyses of disorders for which numerous loci have been reported but for which most of the genes are unknown.
Journal ArticleDOI
The key role of 17β-hydroxysteroid dehydrogenases in sex steroid biology
Fernand Labrie,Van Luu-The,Sheng-Xiang Lin,Labrie Claude,Jacques Simard,Roch Breton,Alain Bélanger +6 more
TL;DR: The various types of human 17β-HSD provide each peripheral cell with the necessary mechanisms to control the level of intracellular androgens and/or estrogens, a new area of hormonal control that the authors call intracrinology.
Journal ArticleDOI
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families
Jacques Simard,Patricia N. Tonin,Francine Durocher,Kenneth Morgan,Johanna M. Rommens,Sebastien Gingras,Chantal Samson,J.-F. Leblanc,Carole Bélanger,F. Dion,Qingyun Liu,Mark H. Skolnick,Mark H. Skolnick,David E. Goldgar,Donna M Shattuck-Eidens,Fernand Labrie,Steven A. Narod +16 more
TL;DR: This article identified BRCA1 mutations in 12 of 30 (40%) Canadian families with breast and/or ovarian cancer, including six of the eight families (75%) that contained two cases of early-onset breast cancer.
Journal Article
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.
Steven A. Narod,D. Ford,P. Devilee,R.B. Barkardottir,H. T. Lynch,S.A. Smith,B.A.J. Ponder,B.L. Weber,Judy Garber,J.M. Birch +9 more
TL;DR: The results of a linkage analysis of 145 families with both breast and ovarian cancer suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous, but 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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