Population Genetics I
... of cancerous cells - gains/losses of chromosomes, rearrangements, amplification/deletion of genetic material -- caused by 1) defects in DNA repair and replication, 2 ) abnormal chromosome segregation, 3) defects in cellcycle control Example: 15% of colon cancer cases are HNPCC (hereditary nonpolypos ...
... of cancerous cells - gains/losses of chromosomes, rearrangements, amplification/deletion of genetic material -- caused by 1) defects in DNA repair and replication, 2 ) abnormal chromosome segregation, 3) defects in cellcycle control Example: 15% of colon cancer cases are HNPCC (hereditary nonpolypos ...
609G:Concepts of Cancer Genetics and Treatments (3 credits)
... Some oncogenes are “created” by translocations that combine the certain domains of different genes to create a new gene. ...
... Some oncogenes are “created” by translocations that combine the certain domains of different genes to create a new gene. ...
STRs and Marker Analysis
... have a BRCA2 mutation. Therefore, she is the best candidate for genetic testing. Jennifer agrees to be tested, and undergoes DNA sequencing of her BRCA1 and BRCA2 genes. Jennifer tests negative for a BRCA1 mutation and tests positive for a genetic mutation of the BRCA2 gene known to be associated wi ...
... have a BRCA2 mutation. Therefore, she is the best candidate for genetic testing. Jennifer agrees to be tested, and undergoes DNA sequencing of her BRCA1 and BRCA2 genes. Jennifer tests negative for a BRCA1 mutation and tests positive for a genetic mutation of the BRCA2 gene known to be associated wi ...
Models for Assessment of Breast Cancer Risk
... fatty breasts) and the fact that dense breasts are not uncommon in the general population. Introduction of this factor was delayed because of the large number of ways in which density can be measured, and the different resultant scales on which it can be reported. In the end we decided to not requir ...
... fatty breasts) and the fact that dense breasts are not uncommon in the general population. Introduction of this factor was delayed because of the large number of ways in which density can be measured, and the different resultant scales on which it can be reported. In the end we decided to not requir ...
LOMN - GeneDx
... risks is to perform genetic testing. The results of this genetic test will have a direct impact on this patient’s treatment and management. Test Information and Impact of Results on Medical Management: As you are aware, numerous genes and cancer syndromes are associated with hereditary cancer. The O ...
... risks is to perform genetic testing. The results of this genetic test will have a direct impact on this patient’s treatment and management. Test Information and Impact of Results on Medical Management: As you are aware, numerous genes and cancer syndromes are associated with hereditary cancer. The O ...
Case 6: Ambiguous test results and variants
... genetics professional regarding the interpretation of the CHEK2 VUS and advances in genetic testing. If the CHEK2 VUS is reclassified in the future to either a benign polymorphism or a pathogenic mutation, that information will benefit both Mary and her family members. She should also update her gen ...
... genetics professional regarding the interpretation of the CHEK2 VUS and advances in genetic testing. If the CHEK2 VUS is reclassified in the future to either a benign polymorphism or a pathogenic mutation, that information will benefit both Mary and her family members. She should also update her gen ...
Mutations Practice Sheet
... 6. Which do you think would be more damaging: an error in DNA, RNA, or protein? Why? ...
... 6. Which do you think would be more damaging: an error in DNA, RNA, or protein? Why? ...
Tumor suppressor
... Breast-ovarian cancer syndrome 1 BRCA1 gene. 80 %lifetime chance of developing breast cancer and 60 percent lifetime chance of ovarian cancer. Tumor suppressor, chromosome 17 Breast-ovarian cancer syndrome 2 BRCA2 gene. 80 % lifetime chance of developing breast cancer and a 20 percent lifetime chanc ...
... Breast-ovarian cancer syndrome 1 BRCA1 gene. 80 %lifetime chance of developing breast cancer and 60 percent lifetime chance of ovarian cancer. Tumor suppressor, chromosome 17 Breast-ovarian cancer syndrome 2 BRCA2 gene. 80 % lifetime chance of developing breast cancer and a 20 percent lifetime chanc ...
top 5 cancers for men over 50
... abnormalities are found • Positive = abnormalities found, such as polyps. • If positive you may be scheduled for further testing. ...
... abnormalities are found • Positive = abnormalities found, such as polyps. • If positive you may be scheduled for further testing. ...
Information for women about family history of
... breast or ovarian cancer. These are genes which normally prevent a woman developing breast or ovarian cancer. Some of these are genes that you may have heard of are called BRCA1 and BRCA2. Their names come from the abbreviation of "breast cancer one" and "breast cancer two". If a woman has inherited ...
... breast or ovarian cancer. These are genes which normally prevent a woman developing breast or ovarian cancer. Some of these are genes that you may have heard of are called BRCA1 and BRCA2. Their names come from the abbreviation of "breast cancer one" and "breast cancer two". If a woman has inherited ...
DIRECTOR OF CANCER CENTER OPERATIONS – MOORES
... region. Moores cancer services were ranked among the top 25 in the nation by U.S. News & World Report in its 2014-15 “Best Hospitals” survey. In 2014, the center was named one of “100 Hospitals and Health Systems with Great Oncology Programs” by Becker’s Hospital Review. The Moores Cancer Center’s u ...
... region. Moores cancer services were ranked among the top 25 in the nation by U.S. News & World Report in its 2014-15 “Best Hospitals” survey. In 2014, the center was named one of “100 Hospitals and Health Systems with Great Oncology Programs” by Becker’s Hospital Review. The Moores Cancer Center’s u ...
Characteristics of Genetic Data
... Predictive Genetic Tests (PGT) How do they differ from other medical tests? ...
... Predictive Genetic Tests (PGT) How do they differ from other medical tests? ...
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.