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 Lenoir, Patricia Tonin, Thlerry Normand, Van Luu The, Anne Vivler, Dana Lasko, Kenneth Morgan, Guy A. Rouleau, Henry T. Lynch, Femand Labrie, Steven A. Narod

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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 languageEnglish
Pages (from-to)1193-1199
Number of pages7
JournalHuman Molecular Genetics
Volume2
Issue number8
DOIs
StatePublished - Aug 1993

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Chromosomes, Human, Pair 21
Ovarian Neoplasms
Breast Neoplasms
Genes
Genetic Recombination
Hereditary Breast and Ovarian Cancer Syndrome
BRCA1 Gene
Estradiol
Oxidoreductases
Breast
Chromosomes
Polymerase Chain Reaction
Mutation
Acids

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 journalArticle

Simard, J, Feunteun, J, Lenoir, G, Tonin, P, Normand, T, The, VL, Vivler, A, Lasko, D, Morgan, K, Rouleau, GA, Lynch, HT, Labrie, F & Narod, SA 1993, 'Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: Exclusion of candidate genes EDH17B2 and RARA', Human Molecular Genetics, vol. 2, no. 8, pp. 1193-1199. https://doi.org/10.1093/hmg/2.8.1193
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. / Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21 : Exclusion of candidate genes EDH17B2 and RARA. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 8. pp. 1193-1199.
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