Article
A germline variation in the progesterone receptor gene increases transcriptional activity and may modify ovarian cancer risk.
The Journal of clinical endocrinology and metabolism - 1 Dec 2004
Agoulnik Irina U, Tong Xiao-Wen, Fischer Dagmar-C, Körner Klaus, Atkinson Neely E, Edwards Dean P, Headon Denis R, Weigel Nancy L, Kieback Dirk G
Abstract excerpt
Recently, we and others have detected a haplotype of the human progesterone receptor gene (PR). This haplotype consists of a 320-bp insertion in intron G together with point mutations in exons 4 and 5 and was named PROGINS. Whereas the exon 5 mutation is silent, the mutation in exon 4 results in a V660L substitution. Interestingly, this genetic polymorphism was seen to cosegregate with an increased risk of...
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