Study of regulatory promoter polymorphism (
... variants of locus‐248G> A of BAX gene in chronic lymphocytic leukemia (CLL) patients revealed a significant difference in GG‐genotype among the CLL patients and the control group. Thus, as a result, the GG‐ genotype and G‐allele of the polymorphic locus‐248G>A of BAX gene have been identified as ris ...
... variants of locus‐248G> A of BAX gene in chronic lymphocytic leukemia (CLL) patients revealed a significant difference in GG‐genotype among the CLL patients and the control group. Thus, as a result, the GG‐ genotype and G‐allele of the polymorphic locus‐248G>A of BAX gene have been identified as ris ...
Causes, Risk Factors, and Prevention
... The gene most often altered in squamous cell cancers is called TP53. This tumor suppressor gene normally causes cells with damaged DNA to die. When TP53 is altered, these abnormal cells may live longer and perhaps go on to become cancerous. A gene often mutated in basal cell cancers is the PTCH1 gen ...
... The gene most often altered in squamous cell cancers is called TP53. This tumor suppressor gene normally causes cells with damaged DNA to die. When TP53 is altered, these abnormal cells may live longer and perhaps go on to become cancerous. A gene often mutated in basal cell cancers is the PTCH1 gen ...
Risk of Gastric Cancer in Hereditary Nonpolyposis Colorectal
... There is a possibility that the high prevalence of gastric cancer in the general population of this country has resulted in a chance development of gastric cancer in the HNPCC families. However, the gastric cancer development at a significantly lower age in the HNPCC families when compared with the ...
... There is a possibility that the high prevalence of gastric cancer in the general population of this country has resulted in a chance development of gastric cancer in the HNPCC families. However, the gastric cancer development at a significantly lower age in the HNPCC families when compared with the ...
Lung Cancer - American Thoracic Society
... computed tomography scans in persons at risk for lung cancer because of smoking. This study should increase our understanding of whether either of these means of early detection will decrease lung cancer mortality. The ability to study the entire genome now makes it possible to understand genetic va ...
... computed tomography scans in persons at risk for lung cancer because of smoking. This study should increase our understanding of whether either of these means of early detection will decrease lung cancer mortality. The ability to study the entire genome now makes it possible to understand genetic va ...
Next-Generation Sequencing Panel
... harbor TP53 mutations, only a fraction carry TP53 mutations without del(17p13) (3-5%).[2] More than 90% of mutations in CLL are in the DNA-binding domain of TP53, with most being missense mutations.[3] CLL patients with TP53 abnormalities have an aggressive clinical course, require earlier intervent ...
... harbor TP53 mutations, only a fraction carry TP53 mutations without del(17p13) (3-5%).[2] More than 90% of mutations in CLL are in the DNA-binding domain of TP53, with most being missense mutations.[3] CLL patients with TP53 abnormalities have an aggressive clinical course, require earlier intervent ...
Molecular Genetic Testing For BRAF Mutations
... positive tumors have overall improved response rates and progression-free survival with kinase inhibitor-directed therapy. Testing whether BRAF mutation exists in melanoma is therefore of critical therapeutic importance. Full sequencing of BRAF may be indicated as a follow-up test in patients with m ...
... positive tumors have overall improved response rates and progression-free survival with kinase inhibitor-directed therapy. Testing whether BRAF mutation exists in melanoma is therefore of critical therapeutic importance. Full sequencing of BRAF may be indicated as a follow-up test in patients with m ...
NIH Public Access
... chromosome 5 (5p15), and the centromere of chromosome 6 (CEP6). These investigators previously evaluated the feasibility of this probe set for lung-cancer detection, demonstrating that chromosomal abnormalities could be detected in sputum samples and tumor touch preps from patients with cancer but n ...
... chromosome 5 (5p15), and the centromere of chromosome 6 (CEP6). These investigators previously evaluated the feasibility of this probe set for lung-cancer detection, demonstrating that chromosomal abnormalities could be detected in sputum samples and tumor touch preps from patients with cancer but n ...
Understanding Lynch Syndrome - Hereditary Nonpolyposis
... This means that the tumour does not “look” like a Lynch syndrome tumour, and the chance of Lynch syndrome in your family is low. If testing on the tumour sample does suggest Lynch syndrome, then further testing can be done on a blood sample, usually from the person whose tumour was tested. The goal ...
... This means that the tumour does not “look” like a Lynch syndrome tumour, and the chance of Lynch syndrome in your family is low. If testing on the tumour sample does suggest Lynch syndrome, then further testing can be done on a blood sample, usually from the person whose tumour was tested. The goal ...
A founder mutation of the potassium channel KCNQ1 in long
... of symptomatic mutation carriers (470 ⫾ 30 ms) was significantly longer than that of the asymptomatic ones (450 ⫾ 30 ms, p ⬍ 0.001), and there was an increasing likelihood of occurrence of symptoms by increasing QTc value (Fig. 3). In 48 cases (58%) the triggering factor for syncope could unequivoca ...
... of symptomatic mutation carriers (470 ⫾ 30 ms) was significantly longer than that of the asymptomatic ones (450 ⫾ 30 ms, p ⬍ 0.001), and there was an increasing likelihood of occurrence of symptoms by increasing QTc value (Fig. 3). In 48 cases (58%) the triggering factor for syncope could unequivoca ...
The novel mutation of CYP21A2 gene and congenital adrenal
... In the present research, we identified compound heterozygous mutations (g.6119T>A and g.6699delA) in a patient with SV CAH. g.6119T>A mutation, also referred as I172N, occurring in the conserved domain of CYP21A2 and causing a loss of the hydrophobic pocket, leads to a reduction in 21-hydroxylase ac ...
... In the present research, we identified compound heterozygous mutations (g.6119T>A and g.6699delA) in a patient with SV CAH. g.6119T>A mutation, also referred as I172N, occurring in the conserved domain of CYP21A2 and causing a loss of the hydrophobic pocket, leads to a reduction in 21-hydroxylase ac ...
A new monoclonal antibody (CAL2) detects
... (WHO) classification.4 Recently, mutations of the CALR gene were found in 50–80% of JAK2 and MPL mutation-negative ET and PMF patients.5,6 Because of this high mutation frequency, detection of CALR mutations is already widely included in the diagnostic programme for MPN. So far CALR mutations are onl ...
... (WHO) classification.4 Recently, mutations of the CALR gene were found in 50–80% of JAK2 and MPL mutation-negative ET and PMF patients.5,6 Because of this high mutation frequency, detection of CALR mutations is already widely included in the diagnostic programme for MPN. So far CALR mutations are onl ...
Patterns of cancer somatic mutations predict genes
... Cancer has been called a disease of the genome since in most cases it is initiated by mutations occurring in somatic cells leading to uncontrolled proliferation and eventually to metastatic invasion of other tissues. On the other hand many diseases, both rare and common, can be caused or favored by ...
... Cancer has been called a disease of the genome since in most cases it is initiated by mutations occurring in somatic cells leading to uncontrolled proliferation and eventually to metastatic invasion of other tissues. On the other hand many diseases, both rare and common, can be caused or favored by ...
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.