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what are the BRCA1 gene mutations reported in Breast cancer patients? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the BRCA1 gene mutations reported in Breast cancer patients with stop_gained effect? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the PIK3CA gene mutations reported in Breast cancer patients at stage iv? | Stage IV is the most advanced stage of breast cancer. It has spread to nearby lymph nodes and to distant parts of the body beyond the breastThe mutation with gene PIK3CA in stage iv are H1047R,H1047R,E545K,H1047R,R88Q,E542K,E545K |
what are the PIK3CA gene mutations reported in Breast cancer patients with stop_gained effect? | PIK3CA is the most recurrently mutated gene in breast cancer, and has been found to important in a number of cancer types. An integral part of the PI3K pathway, PIK3CA has long been described as an oncogene, with two main hotspots for activating mutations, the 542/545 region of the helical domain, and the 1047 region o... |
what are the protein terminating mutations in BRCA1 gene of breast cancer patients? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the protein terminating mutations in BRCA1 gene of breast cancer patients at stage iib? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the protein altering mutations in BRCA1 gene of breast cancer patients? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the ATM gene mutations reported in Breast cancer patients? | The ATM variants are associated with an increased risk of breast cancer. Mutations in the ATM gene caused Ataxia Telangiectasia (A-T), an autosomal recessive syndrome that patients have symptoms such as ionizing radiation sensitivity, cerebellar neurodegeneration immunodeficiency and markedly increased risk of cancers ... |
what are the ATM gene mutations reported in Breast cancer patients with stop_gained effect? | The ATM variants are associated with an increased risk of breast cancer. Mutations in the ATM gene caused Ataxia Telangiectasia (A-T), an autosomal recessive syndrome that patients have symptoms such as ionizing radiation sensitivity, cerebellar neurodegeneration immunodeficiency and markedly increased risk of cancers ... |
what are the protein altering mutations in BRCA1 gene of breast cancer patients? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the PALB2 gene mutations reported in Breast cancer patients? | The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer.The mutation with gene PALB2G971R,Q1146*,K974K,L381V,G115E,S865S,I84I,I609I,S201N |
what are the PALB2 gene mutations reported in Breast cancer patients with stop_gained effect? | The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer. The mutation with gene PALB2 with stop_gained effect is Q1146* |
what are the protein altering mutations in PALB2 gene of breast cancer patients? | The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer.The protein altering mutation with gene PALB2 are G971R,L381V,G115E,S201N |
what are the BRCA2 gene mutations reported in Breast cancer patients? | BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer.The mutation with gene BRCA2 are E2650Q,P527T,C33... |
what are the BRCA2 gene mutations reported in Breast cancer patients with stop_gained effect? | BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer.The mutation with gene BRCA2 with stop_gained eff... |
what are the protein altering mutations in BRCA2 gene of breast cancer patients? | BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer.The protein altering mutation with gene BRCA2 are... |
what are the CHEK2 gene mutations reported in Breast cancer patients? | The CHEK2 gene is an important gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.The mutation with gene CHEK2 are I276N,R346C,Q69*,,L191L,,E308Q,D77H,D203E |
what are the CHEK2 gene mutations reported in Breast cancer patients with stop_gained effect? | The CHEK2 gene is an important gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.The mutation with gene CHEK2 with stop_gained effect is Q69* |
what are the protein altering mutations in CHEK2 gene of breast cancer patients? | The CHEK2 gene is an important gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.The protein altering mutation with gene CHEK2 are I276N,R346C,E308Q,D77H,D203E |
what are the PTEN gene mutations reported in Breast cancer patients? | Phosphatase and tensin homolog deleted on chromosome ten (PTEN), the negative regulator of the proto-oncogenic phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) pathway, constitutes one of the most intriguing tumor suppressor genes involved in a series of biological processes, such as cell growth and survival... |
what are the PTEN gene mutations reported in Breast cancer patients with stop_gained effect? | Phosphatase and tensin homolog deleted on chromosome ten (PTEN), the negative regulator of the proto-oncogenic phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) pathway, constitutes one of the most intriguing tumor suppressor genes involved in a series of biological processes, such as cell growth and survival... |
what are the protein altering mutations in PTEN gene of breast cancer patients? | The PTEN gene normally helps regulate cell growth. Inherited mutations in this gene can cause Cowden syndrome, a rare disorder that puts people at higher risk for both cancer and benign (non-cancer) tumors in the breasts, as well as growths in the digestive tract, thyroid, uterus, and ovaries.The protein altering mutat... |
what are the ARID1A gene mutations reported in Breast cancer patients? | The SWItch mating type/Sucrose Non-Fermenting (SWI/SNF) family, a member of chromatin remodeling complexes. A high prevalence of mutations in SWI/SNF chromatin remodeling complexes has been found in 20 25% of all human cancers. Most of the mutations result in decreased protein expression of the SWI/SNF subunit, which i... |
what are the protein altering mutations in ARID1A gene of breast cancer patients? | The SWItch mating type/Sucrose Non-Fermenting (SWI/SNF) family, a member of chromatin remodeling complexes. A high prevalence of mutations in SWI/SNF chromatin remodeling complexes has been found in 20 25% of all human cancers. Most of the mutations result in decreased protein expression of the SWI/SNF subunit, which i... |
what are the ARID1A gene mutations reported in Breast cancer patients with stop_gained effect? | The SWItch mating type/Sucrose Non-Fermenting (SWI/SNF) family, a member of chromatin remodeling complexes. A high prevalence of mutations in SWI/SNF chromatin remodeling complexes has been found in 20 25% of all human cancers. Most of the mutations result in decreased protein expression of the SWI/SNF subunit, which i... |
what are the TP53 gene mutations reported in Breast cancer patients with stop_gained effect at stage iib? | Stage II describes cancer that is in a limited region of the breast but has grown larger. It reflects how many lymph nodes may contain cancer cells.TP53 is the most frequently mutated gene in cancer. TP53 codes for the transcription factor p53, which initiates transcription of genes involved in processes such as cell c... |
what are the protein altering mutations in TP53 gene at stage iib of breast cancer patients? | TP53 is the most frequently mutated gene in cancer. TP53 codes for the transcription factor p53, which initiates transcription of genes involved in processes such as cell cycle arrest, apoptosis, metabolism, DNA repair, and cellular senescence in response to stressors like radiation and chemotherapy. Stage II describes... |
what are the ESR1 gene mutations reported in Breast cancer patients? | Preclinical and clinical studies have demonstrated that ESR1 mutations can pre-exist in primary tumors and can be enriched during metastasis. Furthermore, ESR1 mutations express a unique transcriptional profile that favors tumor progression, suggesting that selected ESR1 mutations may influence metastasis. The acquisi... |
what are the protein altering mutations in ESR1 gene of breast cancer patients? | Preclinical and clinical studies have demonstrated that ESR1 mutations can pre-exist in primary tumors and can be enriched during metastasis. Furthermore, ESR1 mutations express a unique transcriptional profile that favors tumor progression, suggesting that selected ESR1 mutations may influence metastasis. The acquisi... |
what are the AKT1 gene mutations reported in Breast cancer patients? | AKT1 is a member of the serine-threonine kinase class that plays a key role in cellular processes, including growth, proliferation, survival, and angiogenesis. It is a downstream mediator of phosphatidylinositol 3-kinase which, along with AKT1, is a key mediator of proliferation and survival pathways frequently activat... |
what are the protein altering mutations in AKT1 gene of breast cancer patients? | AKT1 is a member of the serine-threonine kinase class that plays a key role in cellular processes, including growth, proliferation, survival, and angiogenesis. It is a downstream mediator of phosphatidylinositol 3-kinase which, along with AKT1, is a key mediator of proliferation and survival pathways frequently activat... |
what are the RB1 gene mutations reported in Breast cancer patients? | The tumor suppressor RB1 is often lost by mutation, deletion or transcriptional silencing as well as by hyper-phosphorylation of its gene product, pRb, in many human malignancies. Indeed, it is deleted or rearranged in 20 25% of BC cell lines. It is primarily inactivated in TNBC. Furthermore, recent genomic sequencing,... |
what are the RB1 gene mutations reported in Breast cancer patients with stop_gained effect? | The tumor suppressor RB1 is often lost by mutation, deletion or transcriptional silencing as well as by hyper-phosphorylation of its gene product, pRb, in many human malignancies. Indeed, it is deleted or rearranged in 20 25% of BC cell lines. It is primarily inactivated in TNBC. Furthermore, recent genomic sequencing,... |
what are the protein altering mutations in RB1 gene of breast cancer patients? | The tumor suppressor RB1 is often lost by mutation, deletion or transcriptional silencing as well as by hyper-phosphorylation of its gene product, pRb, in many human malignancies. Indeed, it is deleted or rearranged in 20 25% of BC cell lines. It is primarily inactivated in TNBC. Furthermore, recent genomic sequencing,... |
what are the ORC1 gene mutations reported in Breast cancer patients? | ORC1 is the largest subunit of ORC complex required to initiate DNA replication.The mutation with gene ORC1 are Q369H,K739N,R477Q,V133A,D75Efs*13,N442D,Q556K,T455T,L176F,G534S,A592Qfs*41 |
what are the protein altering mutations in ORC1 gene of breast cancer patients? | ORC1 is the largest subunit of ORC complex required to initiate DNA replication.The protein altering mutation with gene ORC1 are Q369H,K739N,R477Q,V133A,N442D,Q556K,L176F,G534S |
what are the mutations in gene ESR1 for females with age 80 and above reported in breast cancer patients? | Preclinical and clinical studies have demonstrated that ESR1 mutations can pre-exist in primary tumors and can be enriched during metastasis. Furthermore, ESR1 mutations express a unique transcriptional profile that favors tumor progression, suggesting that selected ESR1 mutations may influence metastasis. The acquisi... |
what are the mutations in gene ORC1 for females with age 80 and above reported in Breast cancer patients? | ORC1 is the largest subunit of ORC complex required to initiate DNA replication.The mutation with gene ORC1 for females with age 80 and above is R477Q |
what are the mutations in gene BRCA1 for females with age 80 and above reported in Breast cancer patients? | Breast cancer susceptibility gene 1 (BRCA1) is a tumor suppressor gene, which is mainly involved in the repair of DNA damage, cell cycle regulation, maintenance of genome stability, and other important physiological processes. Mutations or defects in the BRCA1 gene significantly increase the risk of breast, ovarian, pr... |
what are the mutations in gene BRCA2 for females with age 80 and above reported in Breast cancer patients? | BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer.The mutation with gene BRCA2 for females with age... |
what are the mutations in gene ATM for females with age 80 and above reported in Breast cancer patients? | The ATM variants are associated with an increased risk of breast cancer. Mutations in the ATM gene caused Ataxia Telangiectasia (A-T), an autosomal recessive syndrome that patients have symptoms such as ionizing radiation sensitivity, cerebellar neurodegeneration immunodeficiency and markedly increased risk of cancers ... |
what are the mutations in gene CHEK2 for females with age 70 and above reported in breast cancer patients? | The CHEK2 gene is an important gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.The mutation with gene CHEK2 for females with age 70 and above are D77H,I276N |
what are the mutations in gene PTEN for females with age 80 and above reported in Breast cancer patients? | Phosphatase and tensin homolog deleted on chromosome ten (PTEN), the negative regulator of the proto-oncogenic phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) pathway, constitutes one of the most intriguing tumor suppressor genes involved in a series of biological processes, such as cell growth and survival... |
what are the mutations in gene TP53 for females with age 80 and above reported in Breast cancer patients? | TP53 is the most frequently mutated gene in cancer. TP53 codes for the transcription factor p53, which initiates transcription of genes involved in processes such as cell cycle arrest, apoptosis, metabolism, DNA repair, and cellular senescence in response to stressors like radiation and chemotherapy.The mutation with g... |
what are the mutations in gene TP53 for females with age 80 and above reported in Breast cancer patients? | TP53 is the most frequently mutated gene in cancer. TP53 codes for the transcription factor p53, which initiates transcription of genes involved in processes such as cell cycle arrest, apoptosis, metabolism, DNA repair, and cellular senescence in response to stressors like radiation and chemotherapy.The mutation with g... |
what are the protein terminating mutations in ATM gene of breast cancer patients? | The ATM variants are associated with an increased risk of breast cancer. Mutations in the ATM gene caused Ataxia Telangiectasia (A-T), an autosomal recessive syndrome that patients have symptoms such as ionizing radiation sensitivity, cerebellar neurodegeneration immunodeficiency and markedly increased risk of cancers ... |
what are the protein terminating mutations in CHEK2 gene of breast cancer patients? | The CHEK2 gene is an important gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk.The mutation with gene CHEK2 with protein terminating mutations is Q69* |
what are the protein terminating mutations in PTEN gene of breast cancer patients? | Phosphatase and tensin homolog deleted on chromosome ten (PTEN), the negative regulator of the proto-oncogenic phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) pathway, constitutes one of the most intriguing tumor suppressor genes involved in a series of biological processes, such as cell growth and survival... |
what are the protein terminating mutations in ARID1A gene of breast cancer patients? | The SWItch mating type/Sucrose Non-Fermenting (SWI/SNF) family, a member of chromatin remodeling complexes. A high prevalence of mutations in SWI/SNF chromatin remodeling complexes has been found in 20 25% of all human cancers. Most of the mutations result in decreased protein expression of the SWI/SNF subunit, which i... |
what are the protein terminating mutations in BRCA2 gene of breast cancer patients? | BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase the risk for these cancers, as well as prostate and pancreatic cancer.The mutation with gene BRCA2 with protein termina... |
what are the protein terminating mutations in PALB2 gene of breast cancer patients? | The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer. The mutation with gene PALB2 with stop_gained effect is Q1146* |
what are the protein terminating mutations in PIK3CA gene of breast cancer patients? | PIK3CA is the most recurrently mutated gene in breast cancer, and has been found to important in a number of cancer types. An integral part of the PI3K pathway, PIK3CA has long been described as an oncogene, with two main hotspots for activating mutations, the 542/545 region of the helical domain, and the 1047 region o... |
what are the protein terminating mutations in RB1 gene of breast cancer patients? | The tumor suppressor RB1 is often lost by mutation, deletion or transcriptional silencing as well as by hyper-phosphorylation of its gene product, pRb, in many human malignancies. Indeed, it is deleted or rearranged in 20 25% of BC cell lines. It is primarily inactivated in TNBC. Furthermore, recent genomic sequencing,... |
what are the gene associated with homologous recombination deficiency? | The genes associated with homologous recombination deficiency are ARID1A, ATM, ATRX, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, MRE11A, NBN, PALB2, RAD50, RAD51, RAD51B, WRN |
what are the inherited gene mutations that can increase breast cancer risk? | The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.If you have inherited a mutated copy of either gene f... |
what are the inherited gene mutations that can increase breast cancer risk? | The ATM gene normally helps repair damaged DNA (or helps kill the cell if the damaged can't be fixed). Inheriting 2 abnormal copies of this gene causes the disease ataxia-telangiectasia. Inheriting one abnormal copy of this gene has been linked to a high rate of breast cancer in some families. |
what are the inherited gene mutations that can increase breast cancer risk? | The PALB2 gene makes a protein that interacts with the protein made by the BRCA2 gene. Mutations in this gene can lead to a higher risk of breast cancer. |
what are the inherited gene mutations that can increase breast cancer risk? | The TP53 gene helps stop the growth of cells with damaged DNA. Inherited mutations of this gene cause Li-Fraumeni syndrome. People with this syndrome have an increased risk of breast cancer, as well as some other cancers such as leukemia, brain tumors, and sarcomas (cancers of bones or connective tissue). This mutation... |
what are the inherited gene mutations that can increase breast cancer risk? | The CHEK2 gene is another gene that normally helps with DNA repair. A CHEK2 mutation increases breast cancer risk. |
what are the inherited gene mutations that can increase breast cancer risk? | The PTEN gene normally helps regulate cell growth. Inherited mutations in this gene can cause Cowden syndrome, a rare disorder that puts people at higher risk for both cancer and benign (non-cancer) tumors in the breasts, as well as growths in the digestive tract, thyroid, uterus, and ovaries. |
what are the inherited gene mutations that can increase breast cancer risk? | Inherited mutations in this gene cause hereditary diffuse gastric cancer, a syndrome in which people develop a rare type of stomach cancer. Women with mutations in this gene also have an increased risk of invasive lobular breast cancer. |
what are the inherited gene mutations that can increase breast cancer risk? | Defects in this gene can lead to Peutz-Jeghers syndrome. People affected with this disorder have pigmented spots on their lips and in their mouths, polyps (abnormal growths) in the urinary and digestive tracts, and a higher risk of many types of cancer, including breast cancer. |
What are the FDA approved therapies and response rate available for metastatic triple negative breast cancer patient who had received two prior treatments for metastatic diasease? | The FDA approved Trodelvy based on the results of a clinical trial of 108 patients. The efficacy of Trodelvy was based on the overall response rate (ORR) which reflects the percentage of patients that had a certain amount of tumor shrinkage. The ORR was 33.3%, with a median duration of response of 7.7 months. Of the ... |
What are the FDA approved therapies available for metastatic triple negative breast cancer patient who is not responding to other treatments? | Metastatic triple-negative breast cancer is an aggressive form of breast cancer with limited treatment options. Chemotherapy has been the mainstay of treatment for triple-negative breast cancer. The approval of Trodelvy represents a new targeted therapy for patients living with this aggressive malignancy |
What are the FDA approved therapies available for metastatic triple negative breast cancer patient who is not responding to other treatments? | Trodelvy is FDA approved therapy for metastatic triple negative breast cancer patient who is not responding to other treatments.Trodelvy is a Trop-2-directed antibody and topoisomerase inhibitor drug conjugate, meaning that the drug targets the Trop-2 receptor that helps the cancer grow, divide and spread, and is linke... |
What is the response rate of Trodelvy for metastatic triple negative breast cancer patient who had received two prior treatments for metastatic diasease? | a clinical trial of 108 patients showed The efficacy of Trodelvy was based on the overall response rate ORR) which reflects the percentage of patients that had a certain amount of tumor shrinkage. The ORR was 33.3%, with a median duration of response of 7.7 months. Of the patients with a response to Trodelvy, 55.6% m... |
What is the primary efficacy endpoint of sacituzumab govitecan for patients with unresectable locally advanced or metastatic triple-negative breast cancer (mTNBC) who have received two or more prior systemic therapies, at least one of them for metastatic disease? | The primary efficacy endpoint was progression-free survival (PFS) in patients without brain metastases at baseline as measured by a blinded, independent, centralized review assessed using RECIST 1.1 criteria. Additional efficacy endpoints included PFS for the full population (with and without brain metastases) and ove... |
what is the FDA approved therapy for residual invasive HER2 positive breast cancer after neoadjuvant therapy? | Trastuzumab emtansine(T-DM1) for patients with early-stage high-risk HER2-positive breast cancer with residual disease after neoadjuvant therapy with trastuzumab and taxane-based treatment |
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