Studying Environmental Influences and Breast Cancer
... Research in breast cancer genetics has yielded important information. Patterns of somatic genetic alteration and gene expression identify subtypes of breast cancer that appear to respond differently to chemotherapy, radiation, and other forms of treatment. These findings may revolutionize how we tre ...
... Research in breast cancer genetics has yielded important information. Patterns of somatic genetic alteration and gene expression identify subtypes of breast cancer that appear to respond differently to chemotherapy, radiation, and other forms of treatment. These findings may revolutionize how we tre ...
Causes, Risk Factors, and Prevention Colorectal Cancer Risk Factors
... which cases the brain tumors are glioblastomas. Peutz-Jeghers syndrome: People with this inherited condition tend to have freckles around the mouth (and sometimes on their hands and feet) and a special type of polyp called hamartomas in their digestive tracts. These people are at a much higher risk ...
... which cases the brain tumors are glioblastomas. Peutz-Jeghers syndrome: People with this inherited condition tend to have freckles around the mouth (and sometimes on their hands and feet) and a special type of polyp called hamartomas in their digestive tracts. These people are at a much higher risk ...
Assortative Mating in Genetic Algorithms for Dynamic Problems
... nature, and mate selection may be as important in guiding evolution than natural selection. Theoretical studies of mate selection using agent-based simulations [8, 9, 6], suggest that some mating strategies confer higher fitness to individuals, and produce higher population diversity than random mati ...
... nature, and mate selection may be as important in guiding evolution than natural selection. Theoretical studies of mate selection using agent-based simulations [8, 9, 6], suggest that some mating strategies confer higher fitness to individuals, and produce higher population diversity than random mati ...
Overview of testing for Lynch syndrome/HNPCC
... it was not performed because these types of mutations are common in the LS gene. • If there is a known LS gene mutation in the family, the result is considered a “true negative,” and the individual can follow guidelines for cancer screening in the general population as long as he or she does not ha ...
... it was not performed because these types of mutations are common in the LS gene. • If there is a known LS gene mutation in the family, the result is considered a “true negative,” and the individual can follow guidelines for cancer screening in the general population as long as he or she does not ha ...
Of mice and (wo)men: genotype–phenotype
... incidence of ovarian cancer. This correlation is well within the 95% CI as determined in the study by Gayther et al. (4). Moreover, Thompson et al. (6) showed that families with a mutation in the 50 region of BRCA1 (upstream of nt 2401, codon 800) are also characterized by a decreased ovarian to bre ...
... incidence of ovarian cancer. This correlation is well within the 95% CI as determined in the study by Gayther et al. (4). Moreover, Thompson et al. (6) showed that families with a mutation in the 50 region of BRCA1 (upstream of nt 2401, codon 800) are also characterized by a decreased ovarian to bre ...
Confirmation of Prostate Cancer Susceptibility Genes Using High
... a role in cancer, including the p53 and BRCA1 genes. Of interest, families that carry BRCA1 mutations have been reported to be at increased risk for prostate cancer (RR 3.33; 95% confidence interval ⳱ 1.8–6.2) (34). Analyses of prostate cancer cases drawn from a population-based, case–control study, ...
... a role in cancer, including the p53 and BRCA1 genes. Of interest, families that carry BRCA1 mutations have been reported to be at increased risk for prostate cancer (RR 3.33; 95% confidence interval ⳱ 1.8–6.2) (34). Analyses of prostate cancer cases drawn from a population-based, case–control study, ...
Two different KIT mutations may lead to different responses to
... KIT mutations, and intra- or intertumoral genetic heterogeneity has also been reported in GIST [3]. However, to the best of our knowledge, distinct genetic alteration between primary and metastatic tumors resulting in primary resistance has not been previously reported. Mutations of KIT exon 10 have ...
... KIT mutations, and intra- or intertumoral genetic heterogeneity has also been reported in GIST [3]. However, to the best of our knowledge, distinct genetic alteration between primary and metastatic tumors resulting in primary resistance has not been previously reported. Mutations of KIT exon 10 have ...
Navigating the NCBI Intructions
... 4. Type “BRCA1” into the Search box. Make sure there is no space between BRCA and 1. Click Search. BRCA1 is a tumor suppressor gene that normally prevents cancer. Mutations in this gene are associated with increased risk of hereditary breast cancer and ovarian cancer when normal function is lost. Th ...
... 4. Type “BRCA1” into the Search box. Make sure there is no space between BRCA and 1. Click Search. BRCA1 is a tumor suppressor gene that normally prevents cancer. Mutations in this gene are associated with increased risk of hereditary breast cancer and ovarian cancer when normal function is lost. Th ...
Chapter 1: Hereditary nonpolyposis colorectal cancer (HNPCC)
... The great majority of colorectal cancers is diagnosed after the age of 50 years. However, cases before the age of 50 are seen as well. The only curative treatment for colorectal cancer is surgery. In a proportion of patients results of treatment can be improved by radiotherapy, chemotherapy and poss ...
... The great majority of colorectal cancers is diagnosed after the age of 50 years. However, cases before the age of 50 are seen as well. The only curative treatment for colorectal cancer is surgery. In a proportion of patients results of treatment can be improved by radiotherapy, chemotherapy and poss ...
CNS.Biomarker.template - College of American Pathologists
... reaction of isocitrate to α-ketoglutarate.7 The finding of mutations in IDH1 and IDH2 in diffuse gliomas has dramatically changed the practice of neuropathology and neurooncology. Mutations in IDH1 are frequent (70%-80%) in World Health Organization (WHO) grade II and III astrocytomas, oligodendrogl ...
... reaction of isocitrate to α-ketoglutarate.7 The finding of mutations in IDH1 and IDH2 in diffuse gliomas has dramatically changed the practice of neuropathology and neurooncology. Mutations in IDH1 are frequent (70%-80%) in World Health Organization (WHO) grade II and III astrocytomas, oligodendrogl ...
BRCA mutation
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumor suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others as benign or of still unknown or uncertain impact. Harmful mutations in these genes may produce a hereditary breast-ovarian cancer syndrome in affected persons. Only 5-10% of breast cancer cases in women are attributed to BRCA1 and BRCA2 mutations (with BRCA1 mutations being slightly more common than BRCA2 mutations), but the impact on women with the gene mutation is more profound. Women with harmful mutations in either BRCA1 or BRCA2 have a risk of breast cancer that is about five times the normal risk, and a risk of ovarian cancer that is about ten to thirty times normal. The risk of breast and ovarian cancer is higher for women with a high-risk BRCA1 mutation than with a BRCA2 mutation. Having a high-risk mutation does not guarantee that the woman will develop any type of cancer, or imply that any cancer that appears was actually caused by the mutation, rather than some other factor.High-risk mutations, which disable an important error-free DNA repair process (homology directed repair), significantly increase the person's risk of developing breast cancer, ovarian cancer and certain other cancers. Why BRCA1 and BRCA2 mutations lead preferentially to cancers of the breast and ovary is not known, but lack of BRCA1 function seems to lead to non-functional X-chromosome inactivation. Not all mutations are high-risk; some appear to be harmless variations. The cancer risk associated with any given mutation varies significantly and depends on the exact type and location of the mutation and possibly other individual factors.Mutations can be inherited from either parent and may be passed on to both sons and daughters. Each child of a genetic carrier, regardless of sex, has a 50% chance of inheriting the mutated gene from the parent who carries the mutation. As a result, half of the people with BRCA gene mutations are male, who would then pass the mutation on to 50% of their offspring, male or female. The risk of BRCA-related breast cancers for men with the mutation is higher than for other men, but still low. However, BRCA mutations can increase the risk of other cancers, such as colon cancer, pancreatic cancer, and prostate cancer.Methods to diagnose the likelihood of a patient with mutations in BRCA1 and BRCA2 getting cancer were covered by patents owned or controlled by Myriad Genetics. Myriad's business model of exclusively offering the diagnostic test led to Myriad growing from being a startup in 1994 to being a publicly traded company with 1200 employees and about $500M in annual revenue in 2012; it also led to controversy over high prices and the inability to get second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.