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 17β-hydroxysterold dehydrogenase II (17β-HSD II), and RARA, the gene for retinolc acid receptor α. 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.
| Original language | English |
|---|---|
| Pages (from-to) | 1193-1199 |
| Number of pages | 7 |
| Journal | Human Molecular Genetics |
| Volume | 2 |
| Issue number | 8 |
| DOIs | |
| State | Published - Aug 1993 |
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All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Genetics(clinical)
Cite this
Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21 : Exclusion of candidate genes EDH17B2 and RARA. / Simard, Jacques; Feunteun, Jean; Lenoir, Gilbert; Tonin, Patricia; Normand, Thlerry; The, Van Luu; Vivler, Anne; Lasko, Dana; Morgan, Kenneth; Rouleau, Guy A.; Lynch, Henry T.; Labrie, Femand; Narod, Steven A.
In: Human Molecular Genetics, Vol. 2, No. 8, 08.1993, p. 1193-1199.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21
T2 - Exclusion of candidate genes EDH17B2 and RARA
AU - Simard, Jacques
AU - Feunteun, Jean
AU - Lenoir, Gilbert
AU - Tonin, Patricia
AU - Normand, Thlerry
AU - The, Van Luu
AU - Vivler, Anne
AU - Lasko, Dana
AU - Morgan, Kenneth
AU - Rouleau, Guy A.
AU - Lynch, Henry T.
AU - Labrie, Femand
AU - Narod, Steven A.
PY - 1993/8
Y1 - 1993/8
N2 - 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 17β-hydroxysterold dehydrogenase II (17β-HSD II), and RARA, the gene for retinolc acid receptor α. 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.
AB - 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 17β-hydroxysterold dehydrogenase II (17β-HSD II), and RARA, the gene for retinolc acid receptor α. 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.
UR - http://www.scopus.com/inward/record.url?scp=0027162213&partnerID=8YFLogxK
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U2 - 10.1093/hmg/2.8.1193
DO - 10.1093/hmg/2.8.1193
M3 - Article
C2 - 8401501
AN - SCOPUS:0027162213
VL - 2
SP - 1193
EP - 1199
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 8
ER -