Gene Mutations Caused by Radiation
... spontaneously, are similarly rare (although they were carefully looked for) in the irradiated material. At the same time, we must acknowledge that even in untreated material, as in the comparisons of "highmutation-rate lines" with other lines reported by Neel (60) and by Ives (29), the rates for one ...
... spontaneously, are similarly rare (although they were carefully looked for) in the irradiated material. At the same time, we must acknowledge that even in untreated material, as in the comparisons of "highmutation-rate lines" with other lines reported by Neel (60) and by Ives (29), the rates for one ...
The RET gene and its associated diseases Hofstra, Robert Martinus
... linked to the centromeric region of chromosome 10 (Angrist et al., 1993; Lyonett et al., 1993). HSCR is a congenital disorder characterized by the absence of parasympathic intrinsic ganglion cells in the submucosal and myenteric plexuses of the hindgut, resulting in intestinal obstruction in neonate ...
... linked to the centromeric region of chromosome 10 (Angrist et al., 1993; Lyonett et al., 1993). HSCR is a congenital disorder characterized by the absence of parasympathic intrinsic ganglion cells in the submucosal and myenteric plexuses of the hindgut, resulting in intestinal obstruction in neonate ...
Experimental studies of deleterious mutation in Saccharomyces
... sexual reproduction. Outcrossing coupled with recombination would result in lower mortality because a fraction of progeny would be freed from an excessive burden of mutations [47]. Another consequence would be uncoupling of the few advantageous mutations from the majority of deleterious ones [66]. T ...
... sexual reproduction. Outcrossing coupled with recombination would result in lower mortality because a fraction of progeny would be freed from an excessive burden of mutations [47]. Another consequence would be uncoupling of the few advantageous mutations from the majority of deleterious ones [66]. T ...
CH # 13-3
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
Gene affecting stature and body size in mammalian species
... for affects on stature in dairy and beef cattle. A total of 8 genomic regions with ...
... for affects on stature in dairy and beef cattle. A total of 8 genomic regions with ...
Classification of colorectal cancer based on correlation of clinical
... growth advantage. Invoking other components of the Wnt signalling pathway such as AXIN240 or TCF441 in the initiation of sporadic MSI-H neoplasia does not provide a surrogate directly equivalent to APC inactivation, since these genes are mutated at a relatively late stage (after the acquisition of M ...
... growth advantage. Invoking other components of the Wnt signalling pathway such as AXIN240 or TCF441 in the initiation of sporadic MSI-H neoplasia does not provide a surrogate directly equivalent to APC inactivation, since these genes are mutated at a relatively late stage (after the acquisition of M ...
- Journal of Clinical Neurology
... mutation in a family.14,24 However, the family in the present study showed two amino acid substitutions in the 4-6-8-3-7 common haplotype of the RYR1 gene (Fig. 1), which was completely inherited as an autosomal dominant trait over three generations (Fig. 2). Therefore, this family differs from a fe ...
... mutation in a family.14,24 However, the family in the present study showed two amino acid substitutions in the 4-6-8-3-7 common haplotype of the RYR1 gene (Fig. 1), which was completely inherited as an autosomal dominant trait over three generations (Fig. 2). Therefore, this family differs from a fe ...
Literature - Oxford Gene Technology
... Lung cancer is the most commonly diagnosed cancer as well as the leading cause of cancer death in males. Worldwide, lung cancer accounted for 1.82 million new cases and 1.58 million deaths in 20121. Recent advances have been made in the diagnosis of lung cancer and the use of genomic technologies fo ...
... Lung cancer is the most commonly diagnosed cancer as well as the leading cause of cancer death in males. Worldwide, lung cancer accounted for 1.82 million new cases and 1.58 million deaths in 20121. Recent advances have been made in the diagnosis of lung cancer and the use of genomic technologies fo ...
Short Tandem Repeat Polymorphism and Cancer Risk: Influence of
... vary with the length of CAG repeats due to the role of androgen receptor in the disease. This speculation has been supported by some epidemiologic studies in which longer CAG repeats are found to be associated with lower risk of prostate cancer. However, not all epidemiologic studies have found evid ...
... vary with the length of CAG repeats due to the role of androgen receptor in the disease. This speculation has been supported by some epidemiologic studies in which longer CAG repeats are found to be associated with lower risk of prostate cancer. However, not all epidemiologic studies have found evid ...
Linköping University Post Print Gene products of chromosome 11q and their
... An array CGH analysis of more than 100 breast cancer samples (of which 56 were included in the clinical material) revealed a frequent gain of 11q13 genes, with concurrent deletion of distal 11q in many cases. CCND1, FADD, CTTN, and PAK1 were amplified at high frequencies, as illustrated by three rep ...
... An array CGH analysis of more than 100 breast cancer samples (of which 56 were included in the clinical material) revealed a frequent gain of 11q13 genes, with concurrent deletion of distal 11q in many cases. CCND1, FADD, CTTN, and PAK1 were amplified at high frequencies, as illustrated by three rep ...
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.