• Study Resource
  • Explore
    • Arts & Humanities
    • Business
    • Engineering & Technology
    • Foreign Language
    • History
    • Math
    • Science
    • Social Science

    Top subcategories

    • Advanced Math
    • Algebra
    • Basic Math
    • Calculus
    • Geometry
    • Linear Algebra
    • Pre-Algebra
    • Pre-Calculus
    • Statistics And Probability
    • Trigonometry
    • other →

    Top subcategories

    • Astronomy
    • Astrophysics
    • Biology
    • Chemistry
    • Earth Science
    • Environmental Science
    • Health Science
    • Physics
    • other →

    Top subcategories

    • Anthropology
    • Law
    • Political Science
    • Psychology
    • Sociology
    • other →

    Top subcategories

    • Accounting
    • Economics
    • Finance
    • Management
    • other →

    Top subcategories

    • Aerospace Engineering
    • Bioengineering
    • Chemical Engineering
    • Civil Engineering
    • Computer Science
    • Electrical Engineering
    • Industrial Engineering
    • Mechanical Engineering
    • Web Design
    • other →

    Top subcategories

    • Architecture
    • Communications
    • English
    • Gender Studies
    • Music
    • Performing Arts
    • Philosophy
    • Religious Studies
    • Writing
    • other →

    Top subcategories

    • Ancient History
    • European History
    • US History
    • World History
    • other →

    Top subcategories

    • Croatian
    • Czech
    • Finnish
    • Greek
    • Hindi
    • Japanese
    • Korean
    • Persian
    • Swedish
    • Turkish
    • other →
 
Profile Documents Logout
Upload
Lung Cancer and the PTEN R233* Mutation This material will help
Lung Cancer and the PTEN R233* Mutation This material will help

Senate inquiry into gene patents - Clinical Oncology Society of
Senate inquiry into gene patents - Clinical Oncology Society of

... may be sent overseas for analysis at additional cost. Family cancer clinics (funded by state ...
Slides - Sapling Learning
Slides - Sapling Learning

... within a DNA sequence for a gene – Deletion – an event in which one or more nucleotides are removed from a DNA sequence for a gene – Substitution (point mutation) – an event in which a nucleotide is replaced with a different nucleotide ...
High-moderate or increased risk of Bowel Cancer
High-moderate or increased risk of Bowel Cancer

MS Word  - VCU Secrets of the Sequence
MS Word - VCU Secrets of the Sequence

Familial Pancreatic Cancer: Hope Can Become Truth
Familial Pancreatic Cancer: Hope Can Become Truth

... now this type of tumor ranks as the fifth or sixth most frequent cause of death due to cancer in many western countries [1]. In 2000, worldwide figures for pancreatic cancer were projected at 216,400 new cases and 213,500 deaths [2]; the data coming from the United States in 2004, estimated that 31, ...
Does Cancer Run in My Family?
Does Cancer Run in My Family?

... sarcoma, ovarian cancer or pancreatic cancer. ...
Lecture 6
Lecture 6

Expansion of the Ontario Breast Screening Program
Expansion of the Ontario Breast Screening Program

... Q5. Why are women at high risk for breast cancer recommended to receive annual screening with MRI in addition to mammography? A5. Annual breast MRI and mammography are the recommended standard of care for women at high risk as they complement each other. For women at high risk, screening with mammo ...
Mutations
Mutations

Mutations, Karyotyping, Pedigrees
Mutations, Karyotyping, Pedigrees

Gene Section SLC16A1 (solute carrier family 16, member 1
Gene Section SLC16A1 (solute carrier family 16, member 1

Claudia Adams Barr Program in Innovative Cancer Research Dana
Claudia Adams Barr Program in Innovative Cancer Research Dana

... One of the difficult problems facing cancer physicians is the ability of tumors to become resistant to therapies that are initially effective. A most promising area of cancer therapeutics is using chemistry for basic research to design and create new classes of compounds that bind to and inhibit the ...
Sample Test Report
Sample Test Report

Genetic testing for colon cancer: Joint statement
Genetic testing for colon cancer: Joint statement

... Genetic testing for colon cancer: Joint statement of the American College of Medical Genetics and American Society of Human Genetics Joint Test and Technology Transfer Committee Working Group Colorectal cancer (CRC) is the second leading cause of cancer death in the United States. Annually, approxim ...
Matthew_Sigurdson_Final
Matthew_Sigurdson_Final

... C. Briefly outline what advice you would give to the mother about her risk for breast cancer, based on your analysis? I would prefer to refer her to a genetic counselor rather than answering myself. However, if she wanted me to offer my advice, I would recommend regular checkups and/or a preventati ...
Biol 3301: Genetics Exam #3 Practice questions
Biol 3301: Genetics Exam #3 Practice questions

Supplementary Legends
Supplementary Legends

Lecture Slides - Boston University
Lecture Slides - Boston University

13.3 Study Workbook
13.3 Study Workbook

13.3_201-204
13.3_201-204

... means. Errors can be made during replication. Environmental conditions may increase the rate of mutation. Mutagens are chemical or physical agents in the environment that cause mutations. The effects of mutations on genes vary widely: Some mutations have little or no effect. Some mutations produce b ...
mutations
mutations

Solid Tumour Section Head and neck squamous cell carcinoma
Solid Tumour Section Head and neck squamous cell carcinoma

Ekspresi interleukin-2 dan interleukin
Ekspresi interleukin-2 dan interleukin

Mutations - Bensalem High School
Mutations - Bensalem High School

< 1 ... 21 22 23 24 25 26 27 28 29 ... 58 >

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.
  • studyres.com © 2025
  • DMCA
  • Privacy
  • Terms
  • Report