What is ESR mutation?
In metastatic hormone receptor-positive breast cancer, ESR1 mutations are a common cause of acquired resistance to the backbone of therapy, estrogen deprivation by aromatase inhibition. How these mutations affect tumor sensitivity to established and novel therapies are active areas of research.
What chromosome is ESR1 on?
Chromosome 6
Estrogen receptor alpha
| Gene location (Human) | ||
|---|---|---|
| Chr. | Chromosome 6 (human) | |
| Band | 6q25.1-q25.2 | Start |
| End |
What does ER mean in breast cancer?
Estrogen receptor (ER) positive. The cells of this type of breast cancer have receptors that allow them to use the hormone estrogen to grow. Treatment with anti-estrogen hormone (endocrine) therapy can block the growth of the cancer cells.
What is aromatase inhibitors used for?
Aromatase inhibitors (AIs) lower estrogen levels by stopping an enzyme in fat tissue (called aromatase) from changing other hormones into estrogen. (Estrogen can fuel the growth of breast cancer cells.) These drugs don’t stop the ovaries from making estrogen.
What if I test positive for BRCA1?
A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn’t have the mutation. But a positive result doesn’t mean you’re certain to develop cancer.
What is the difference between alpha and beta estrogen receptors?
ERα is present mainly in mammary gland, uterus, ovary (thecal cells), bone, male reproductive organs (testes and epididymis), prostate (stroma), liver, and adipose tissue. By contrast, ERβ is found mainly in the prostate (epithelium), bladder, ovary (granulosa cells), colon, adipose tissue, and immune system.
What disorders does estrogen cause?
Given this widespread role for estrogen in human physiology, it is not surprising that estrogen is also implicated in the development or progression of numerous diseases, which include but are not limited to various types of cancer (breast, ovarian, colorectal, prostate, endometrial), osteoporosis, neurodegenerative …
What organs does estrogen affect?
In addition to regulating the menstrual cycle, estrogen affects the reproductive tract, the urinary tract, the heart and blood vessels, bones, breasts, skin, hair, mucous membranes, pelvic muscles, and the brain.