Breast Cancer, ESR1, Overexpression

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Expand Collapse Breast Cancer  - General Description Breast cancer is the most common non-cutaneous cancer among women in the United States. This year about 252,710 women in the U.S. will be told by a doctor that they have breast cancer. Half of these people will be at least 62 years old. However, an estimated 3,327,552 women are living with female breast cancer in the United States following treatment.

Germline (inherited) mutations in either the BRCA1 or BRCA2 gene confer an increased risk of breast and/or ovarian cancer to women. In addition, women and men carrying BRCA1 or BRCA2 mutations are at increased risk of developing other primary cancers. Genetic testing is available at the MGH genetics lab to detect mutations in members of high-risk families. Such individuals should also be referred for genetic counseling to obtain more information about the implications of inherited BRCA1 and BRCA2 mutations. Innovative treatments are available for patients with inherited BRCA1 or BRCA2 mutations at the MGH Cancer Center. There is also a large portfolio of clinical trials testing the newest treatments at the MGH Cancer Center.

Despite significant improvements in the treatment of breast tumors, new therapies and treatment strategies are needed to improve outcomes for breast cancer patients. There are a number of novel targeted therapies as well as new immuno-therapies being used that are tailored to individual patient mutations at the MGH Cancer Center.

Source: National Cancer Institute, 2017
Breast cancer is the most common non-cutaneous cancer among women in the United States. This year about 252,710 women in the U.S. will be told by a doctor that they have breast cancer. Half of these people will be at least 62 years old. However, an estimated 3,327,552 women are living with female breast cancer in the United States following treatment.

Germline (inherited) mutations in either the BRCA1 or BRCA2 gene confer an increased risk of breast and/or ovarian cancer to women. In addition, women and men carrying BRCA1 or BRCA2 mutations are at increased risk of developing other primary cancers. Genetic testing is available at the MGH genetics lab to detect mutations in members of high-risk families. Such individuals should also be referred for genetic counseling to obtain more information about the implications of inherited BRCA1 and BRCA2 mutations. Innovative treatments are available for patients with inherited BRCA1 or BRCA2 mutations at the MGH Cancer Center. There is also a large portfolio of clinical trials testing the newest treatments at the MGH Cancer Center.

Despite significant improvements in the treatment of breast tumors, new therapies and treatment strategies are needed to improve outcomes for breast cancer patients. There are a number of novel targeted therapies as well as new immuno-therapies being used that are tailored to individual patient mutations at the MGH Cancer Center.

Source: National Cancer Institute, 2017
Breast cancer is the most common non-cutaneous cancer among women in the United States. This year about 252,710 women in the U.S. will be told by a doctor that they have breast cancer. Half of these people will be at least 62 years old. However, an estimated 3,327,552 women are living with female breast cancer in the United States following treatment.

Germline (inherited) mutations in either the BRCA1 or BRCA2 gene confer an increased risk of breast and/or ovarian cancer to women. In addition, women and men carrying BRCA1 or BRCA2 mutations are at increased risk of developing other primary cancers. Genetic testing is available at the MGH genetics lab to detect mutations in members of high-risk families. Such individuals should also be referred for genetic counseling to obtain more information about the implications of inherited BRCA1 and BRCA2 mutations. Innovative treatments are available for patients with inherited BRCA1 or BRCA2 mutations at the MGH Cancer Center. There is also a large portfolio of clinical trials testing the newest treatments at the MGH Cancer Center.

Despite significant improvements in the treatment of breast tumors, new therapies and treatment strategies are needed to improve outcomes for breast cancer patients. There are a number of novel targeted therapies as well as new immuno-therapies being used that are tailored to individual patient mutations at the MGH Cancer Center.

Source: National Cancer Institute, 2017
Breast cancer is the most common non-cutaneous cancer among women in the United States. This year about 252,710 women in the U.S. will be told by a doctor that they have breast cancer. Half of these people will be at least 62 years old. However, an estimated 3,327,552 women are living with female breast cancer in the United States following treatment.

Germline (inherited) mutations in either the BRCA1 or BRCA2 gene confer an increased risk of breast and/or ovarian cancer to women. In addition, women and men carrying BRCA1 or BRCA2 mutations are at increased risk of developing other primary cancers. Genetic testing is available at the MGH genetics lab to detect mutations in members of high-risk families. Such individuals should also be referred for genetic counseling to obtain more information about the implications of inherited BRCA1 and BRCA2 mutations. Innovative treatments are available for patients with inherited BRCA1 or BRCA2 mutations at the MGH Cancer Center. There is also a large portfolio of clinical trials testing the newest treatments at the MGH Cancer Center.

Despite significant improvements in the treatment of breast tumors, new therapies and treatment strategies are needed to improve outcomes for breast cancer patients. There are a number of novel targeted therapies as well as new immuno-therapies being used that are tailored to individual patient mutations at the MGH Cancer Center.

Source: National Cancer Institute, 2017
Expand Collapse ESR1  - General Description
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The ESR1 gene encodes an estrogen receptor, which is a ligand-activated transcription factor composed of hormone binding domain, DNA binding domain, and transcription activation domain. The protein localizes to the nucleus, where it forms homodimers, or heterodimerizes with ESR2. Transactivation in the nucleus involves either direct homodimer binding to an estrogen response element (ERE) sequence, or association with other DNA-binding transcription factors such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3 to mediate ERE-independent signaling. Mutual trans-repression occurs between the ESR and NF-kapa-B in a cell-type specific manner. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full length nature of many of these variants has not been determined. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone.

Sources: Ref Sequence Mar 2014; NCBI Gene; UniProt;
The ESR1 gene encodes an estrogen receptor, which is a ligand-activated transcription factor composed of hormone binding domain, DNA binding domain, and transcription activation domain. The protein localizes to the nucleus, where it forms homodimers, or heterodimerizes with ESR2. Transactivation in the nucleus involves either direct homodimer binding to an estrogen response element (ERE) sequence, or association with other DNA-binding transcription factors such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3 to mediate ERE-independent signaling. Mutual trans-repression occurs between the ESR and NF-kapa-B in a cell-type specific manner. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full length nature of many of these variants has not been determined. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone.

Sources: Ref Sequence Mar 2014; NCBI Gene; UniProt;
PubMed ID's
24217577, 12496244, 24398047, 24583794
Expand Collapse Overexpression  in ESR1
ESR1 is the gene that encodes the Estrogen Receptor. In a subset of breast and other cancers, the ESR1 gene is expressed at a higher level than in normal cells. For some reason, the normal regulation of gene expression has been lost or altered. This genetic alteration is called overexpression, and the result is cells that have more estrogen receptor proteins than normal cells.
ESR1 is the gene that encodes the Estrogen Receptor. In a subset of breast and other cancers, the ESR1 gene is expressed at a higher level than in normal cells. For some reason, the normal regulation of gene expression has been lost or altered. This genetic alteration is called overexpression, and the result is cells that have more estrogen receptor proteins than normal cells.

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Your Matched Clinical Trials

Trial Matches: (D) - Disease, (G) - Gene, (M) - Mutation
Trial Status: Showing Results: 1-10 of 37 Per Page:
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Protocol # Title Location Status Match
NCT03332797 A Study of GDC-9545 Alone or in Combination With Palbociclib and/or Luteinizing Hormone-Releasing Hormone (LHRH) Agonist in Locally Advanced or Metastatic Estrogen Receptor-Positive Breast Cancer A Study of GDC-9545 Alone or in Combination With Palbociclib and/or Luteinizing Hormone-Releasing Hormone (LHRH) Agonist in Locally Advanced or Metastatic Estrogen Receptor-Positive Breast Cancer MGH Open DG
NCT03285412 CDK 4/6 Inhibitor, LEE011 (Ribociclib), in Combination With Adjuvant Endocrine Therapy at Varying Duration for ER-positive Breast Cancer CDK 4/6 Inhibitor, LEE011 (Ribociclib), in Combination With Adjuvant Endocrine Therapy at Varying Duration for ER-positive Breast Cancer MGH Open DG
NCT03056755 Study Assessing the Efficacy and Safety of Alpelisib Plus Fulvestrant or Letrozole, Based on Prior Endocrine Therapy, in Patients With PIK3CA Mutation With Advanced Breast Cancer Who Have Progressed on or After Prior Treatments Study Assessing the Efficacy and Safety of Alpelisib Plus Fulvestrant or Letrozole, Based on Prior Endocrine Therapy, in Patients With PIK3CA Mutation With Advanced Breast Cancer Who Have Progressed on or After Prior Treatments MGH Open DG
NCT03006172 To Evaluate the Safety, Tolerability, and Pharmacokinetics of GDC-0077 Single Agent in Participants With Solid Tumors and in Combination With Endocrine and Targeted Therapies in Participants With Breast Cancer To Evaluate the Safety, Tolerability, and Pharmacokinetics of GDC-0077 Single Agent in Participants With Solid Tumors and in Combination With Endocrine and Targeted Therapies in Participants With Breast Cancer MGH Open DG
NCT03822312 A Pilot Study of Tomographic Optical Breast Imaging (DBT-TOBI) to Monitor Response to Neoadjuvant Therapy A Pilot Study of Tomographic Optical Breast Imaging (DBT-TOBI) to Monitor Response to Neoadjuvant Therapy MGH Open D
NCT02099058 A Study Evaluating the Safety, Pharmacokinetics (PK), and Preliminary Efficacy of ABBV-399 in Subjects With Advanced Solid Tumors A Study Evaluating the Safety, Pharmacokinetics (PK), and Preliminary Efficacy of ABBV-399 in Subjects With Advanced Solid Tumors MGH Open D
NCT03289962 A Study of RO7198457 as a Single Agent and in Combination With Atezolizumab in Participants With Locally Advanced or Metastatic Tumors A Study of RO7198457 as a Single Agent and in Combination With Atezolizumab in Participants With Locally Advanced or Metastatic Tumors MGH Open D
NCT02052778 A Study of TAS-120 in Patients With Advanced Solid Tumors A Study of TAS-120 in Patients With Advanced Solid Tumors MGH Open D
NCT03215511 A Study to Test the Safety of the Investigational Drug Selitrectinib in Children and Adults That May Treat Cancer A Study to Test the Safety of the Investigational Drug Selitrectinib in Children and Adults That May Treat Cancer MGH Open D
NCT03701334 A Trial to Evaluate Efficacy and Safety of Ribociclib With Endocrine Therapy as Adjuvant Treatment in Patients With HR+/HER2- Early Breast Cancer A Trial to Evaluate Efficacy and Safety of Ribociclib With Endocrine Therapy as Adjuvant Treatment in Patients With HR+/HER2- Early Breast Cancer MGH Open D
Trial Status: Showing Results: 1-10 of 37 Per Page:
1234Next »
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