Identification of a variant form of the human estrogen receptor with an amino acid replacement

García, Teresa; Sanchez, M.; Cox, James L.; Shaw, Phillip; Ross, Jerri; Lehrer, Steven; Schachter, Beth S.

doi:10.1093/nar/17.20.8364

Cited by 65 publications

(14 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some portion of the genetic risk factors for MD in women might reflect the sensitivity to the depressogenic effect of menstrual and/or pregnancy-related hormonal changes, [35][36] mediated, for example, by variation in the estrogen receptor. 37 Such genetic risk factors, while expressed in women, would be largely dormant in men. In accord with this hypothesis, we recently found that genetic risk factors for premenstrual symptoms accounted for ∼17% of the genetic risk factors for lifetime MD in female twins.…”

Section: Genetic Risk Factors For MD In Men and Women: Same Or Differmentioning

confidence: 99%

A Population-Based Twin Study of Lifetime Major Depression in Men and Women

Kendler

Prescott²

1999

Arch Gen Psychiatry

464

280

View full text Add to dashboard Cite

show abstract

Section: Genetic Risk Factors For MD In Men and Women: Same Or Differmentioning

confidence: 99%

A Population-Based Twin Study of Lifetime Major Depression in Men and Women

Kendler

Prescott²

1999

Arch Gen Psychiatry

464

280

View full text Add to dashboard Cite

show abstract

“…When considering all the published data, it is quite possible that a single gene at 6q27 could have relevance to the development and progression of a wide variety of tumour types. (McGuire et al, 1992) and an Ala-Val substitution was recognised by an RNase protection assay (Garcia et al, 1989). Some of these variants have functional significance, acting in some cases as a dominant positive receptor, i.e.…”

Section: Loh On Chromosome 6qmentioning

confidence: 99%

Frequent loss of heterozygosity on chromosome 6 in human ovarian carcinoma

Foulkes

Ragoussis²,

Stamp³

et al. 1993

Br J Cancer

109

View full text Add to dashboard Cite

Summary Investigation of genetic changes in tumours by loss of heterozygosity (LOH) is a powerful technique for identifying chromosomal regions that may contain tumour suppressor genes. LOH has been described on chromosome 6 in ovarian carcinoma using restriction fragment length polymorphism analysis with a small number of probes. We studied 29 ovarian carcinomas with 19 probes mapping to chromosome 6. Sixteen of the 29 tumours showed LOH on 6q (55%). Of these 16, 63% showed loss of all informative markers on that arm. One tumour showed loss of 6q24-qter, localising the putative tumour suppressor gene to that region. Loss on 6p was 28% overall. However, using three dinucleotide repeat primer pairs from 6p to study LOH in seven (Friend et al., 1986), with the finding that a germline mutation constituted the first 'hit', to be followed by a second, somatic inactivation of the gene, which was usually detectable by RFLP analysis of filters of DNA from matched normal-tumour pairs. More recently, it has been shown that some families with retinoblastoma share a common mutation that can be traced from affected parent to affected child. In these cases, the other allele is lost or inactivated in various ways that differ in different affected family members (Phillips et al., 1991).For soine years there has been considerable cytogenetic evidence that in OC, one chromosome 6, particularly the long arm, is missing in part or in whole (Mitelman, 1991 seven had breakpoints between 6q21 -23, thus loss of the long arm telomeric to this region was the commonest single abnormality of chromosome 6 in this study. Despite the common occurrence of aneuploidy, Atkin et al. (1983) showed that one copy of 6q may be lost in early stage tumours, when the karotype is relatively undisturbed. These data have been followed up more recently by molecular studies of LOH that have broadly confirmed the cytogenetic findings (Ehlen & Dubeau, 1990;Lee et al., 1990).Further data are now needed to accurately define regions of LOH, so that efforts can be concentrated on cloning genes in the relevant region of chromosome 6. Therefore we have studied 29 pairs of matched malignant tumour and normal DNA with ten DNA markers that detect polymorphic sequences on 6q and six that do so on 6p. We also used the centromeric marker p308 (D6ZJ). Oka et al. (1991) showed that by using carefully dissected tumours it was possible to reliably demonstrate LOH by PCR. Subsequently dinucleotide (microsatellite) repeats mapping to chromosome 17 were used to successfully demonstrate LOH in breast cancer (Futreal et al., 1992). Therefore we included the dinucleotide repeats D6S89 and FTHPI, which were utilised to study the regions 6p22.3-23 and 6pl2-21 respectively by PCR-LOH. From the use of these eight 6p probes in all the tumours, we selected seven tumours for a more extensive analysis with three further dinucleotide repeats mapping to the region 6pl2-6p23. We also included 12 nonmalignant ovarian tissue specimens in our RFLP analysis. Although not all these samples wer...

show abstract

“…Polymorphisms of CYP1A1 MspI, ERa PvuII, and ERa XbaI are the possible risk factors implicated in the initiation and development of the breast cancer through estrogen tumorigenesis pathway (3)(4)(5)(6)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25). Hence, we examined whether polymorphisms of these two genes that are related to estrogen metabolism and its effect increases the risk of breast cancer among Chinese women.…”

Section: Introductionmentioning

confidence: 99%

Joint Effects of the CYP1A1 MspI, ERα PvuII, and ERα XbaI Polymorphisms on the Risk of Breast Cancer: Results from a Population-Based Case-Control Study in Shanghai, China

Shen

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

Estrogen-metabolizing gene and estrogen receptor (ER) genes are the possible risk factors implicated in the initiation and development of breast through estrogen tumorigenesis pathway. We examined whether CYP1A1 MspI, ERa PvuII, and ERa XbaI genetic polymorphisms could increase the risk of breast cancer among Chinese women and gene-gene joint effect on the breast cancer risk in a subset from a population-based case-control study conducted in urban Shanghai from January 1, 1998 and November 31, 2001. PCR-RFLP method based on buccal cells was used to examine the three candidate polymorphisms in 282 breast cancer cases and 298 controls. Compared with CYP1A1 MspI m1/m1, the risk of breast cancer was doubled for genotypes CYP1A1 MspI m1/m2 [odds ratio (OR), 1.83; 95% confidence interval (95% CI), 1.24-2.69] and CYP1A1 MspI m2/m2 (OR, 2.22; 95% CI, 1.26-3.85). The association seemed to be stronger among cases diagnosed older than 45 years and women without a family history of breast cancer. ERa PvuII pp and ERa XbaI xx polymorphisms, which are in possible linkage disequilibrium, were both associated with a nonsignificantly elevated risk in all subjects; the associations seemed to be stronger among women with a family history of breast cancer. There seems to be a joint effect on the breast cancer risk between CYP1A1 MspI and ERa XbaI genotypes (m2/m2 and xx; OR, 5.87; 95% CI,

show abstract

Identification of a variant form of the human estrogen receptor with an amino acid replacement

Abstract: EMBL accession no. X15056Estrogen receptor (ER) is a ligand-dependent transcriptional regulator. ER protein has several functionally distinct regions, including a DNA-binding domain in its

Cited by 65 publications

References 7 publications

A Population-Based Twin Study of Lifetime Major Depression in Men and Women

A Population-Based Twin Study of Lifetime Major Depression in Men and Women

Frequent loss of heterozygosity on chromosome 6 in human ovarian carcinoma

Joint Effects of the CYP1A1 MspI, ERα PvuII, and ERα XbaI Polymorphisms on the Risk of Breast Cancer: Results from a Population-Based Case-Control Study in Shanghai, China

Contact Info

Product

Resources

About