Incidence of an estrogen receptor polymorphism in breast cancer patients

Schmutzler, Rita K.; Sanchez, M.; Lehrer, Steven; Chaparro, Carlos A.; Phillips, Christopher; Rabin, Jill M.; Schachter, Beth S.

doi:10.1007/bf01980941

Cited by 31 publications

(12 citation statements)

References 14 publications

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“…This analysis used DNA obtained from blood lymphocytes of women, as we have described. 8 Both the wild-type and variant alleles were specifically identified in the genotyping.…”

Section: Methodsmentioning

confidence: 99%

Estrogen receptor variant and hypertension in women.

et al. 1993

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Eighty-eight women visiting a gynecologist were tested for an estrogen receptor B-variant allele. The women were ethnically and racially homogeneous to a large degree. They were from a suburb of Long Island, and most were white. The 12% incidence of hypertension in women with the estrogen receptor wild-type allele is comparable to the 13-32% incidence in the general population of women aged 55-64 years. However, the 48% incidence of hypertension in women with the estrogen receptor B-variant allele is considerably higher than in the general population of women in this age group. We conclude that the presence of the estrogen receptor B-variant allele might have increased the prevalence of hypertension in the women in this study. T he prevalence of hypertension in men and women is different and depends on age. In subjects aged 25-54 years, hypertension is more prevalent in men; but in subjects older than 54 years, hypertension is more prevalent in women.1 At least one gene has been implicated in the genesis of hypertension. 2We recently documented the existence of a variant allele of the human estrogen receptor (ER) gene. We reported that women with breast cancer and this variant allele had a high incidence of spontaneous abortion. 3The variant gene differs from the wild-type gene within the B domain. 4 A single point mutation, a guanine-to-cytosine transition at position 261, causes a silent mutation in codon 87. 5-6 Of interest is the fact that the unmutated sequence, GCG, codes least frequently for alanine in humans (7.1% of cases); the silently mutated codon GCC codes most frequently (29.5% of cases).7 No doubt another mutation, segregating with the silent mutation, plays a role in producing the high incidence of spontaneous abortion.We now report that the ER B-variant allele is associated with hypertension in women. Furthermore, women with the variant allele are significantly younger than those without the variant. MethodsTo identify the B-variant, we used the polymerase chain reaction to amplify genomic DNA around the polymorphic region of the ER gene, followed by allelespecific oligonucleotide hybridization. This analysis used DNA obtained from blood lymphocytes of women, as we have described.8 Both the wild-type and variant alleles were specifically identified in the genotyping.Eighty-eight women of all ages visiting a gynecologist were studied. Women were excluded if they had cancer or other serious illness. A nurse or physician made a single measurement of blood pressure. The technicians genotyping the blood lymphocyte DNA were blinded as to the blood pressure status of the patients. The women were ethnically and racially homogeneous to a large degree. They were from a suburb of Long Island, and most were white. None of the women who were approached refused to participate in the study.A woman was classified as hypertensive if she had a systolic blood pressure ^140 mm Hg and a diastolic blood pressure £90 mm Hg or if she was being treated for hypertension with antihypertensive medications. She was classif...

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“…This analysis used DNA obtained from blood lymphocytes of women, as we have described. 8 Both the wild-type and variant alleles were specifically identified in the genotyping.…”

Section: Methodsmentioning

confidence: 99%

Estrogen receptor variant and hypertension in women.

et al. 1993

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“…This polymorphism has been found to be associated with recurrent abortions and breast cancer in some studies (26,27) . Other studies could not confirm these findings (28–30) …”

Section: Introductionmentioning

confidence: 95%

A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

Langdahl

Løkke

Carstens

et al. 2000

Journal of Bone and Mineral Research

101

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“…Thus, mutations occurring in LBD can dramatically alter the action and effect of an estrogenic substance and turn an antagonist into an agonist. However, the frequency of polymorphisms in ER in the human population is still unknown, although mutations in ER have been found in breast tumor cells [174] and there is a report of an introduction of a stop codon in exon 2 resulting in an estrogen-resistant man [175].…”

Section: Estrogen Receptorsmentioning

confidence: 99%

Estrogen-mediated immunosuppression in autoimmune diseases

Jansson

Holmdahl

1998

Inflammation Research

156

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Gender affects the susceptibility to many autoimmune diseases. Women have an increased risk of developing diseases such as rheumatoid arthritis and multiple sclerosis compared with men. The female preponderance is believed to depend in part on the influence of sex hormones on the immune system. The mechanism of estrogen-induced immune suppression both in human autoimmune diseases and their experimental animal model counterparts is discussed. In addition, the mechanisms of estrogen and anti-estrogens are discussed in relation to their possible use as future therapeutic anti-inflammatory agents.

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Incidence of an estrogen receptor polymorphism in breast cancer patients

Cited by 31 publications

References 14 publications

Estrogen receptor variant and hypertension in women.

Estrogen receptor variant and hypertension in women.

A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

Estrogen-mediated immunosuppression in autoimmune diseases

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