BRCA mutation: Difference between revisions
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[[File:Autodominant_en.svg|thumb|Autodominant_en.svg]] [[File:BRCA_Genes.svg|thumb | {{SI}} | ||
{{Infobox medical condition | |||
| name = BRCA mutation | |||
| image = [[File:BRCA1_and_BRCA2_mutations_and_absolute_cancer_risk.jpg|250px]] | |||
| caption = BRCA1 and BRCA2 mutations and absolute cancer risk | |||
| field = [[Oncology]], [[Genetics]] | |||
| symptoms = Increased risk of [[breast cancer]], [[ovarian cancer]], [[prostate cancer]], [[pancreatic cancer]], [[melanoma]] | |||
| complications = Cancer development | |||
| onset = Varies, often detected in adulthood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in [[BRCA1]] or [[BRCA2]] genes | |||
| risks = Family history of [[breast cancer]] or [[ovarian cancer]], [[Ashkenazi Jewish]] ancestry | |||
| diagnosis = [[Genetic testing]] | |||
| differential = Other hereditary cancer syndromes | |||
| prevention = [[Prophylactic surgery]], [[chemoprevention]], [[lifestyle modification]] | |||
| treatment = [[Surveillance]], [[surgery]], [[chemotherapy]], [[radiation therapy]] | |||
| prognosis = Varies depending on cancer development and treatment | |||
| frequency = 1 in 400 to 1 in 800 in the general population; 1 in 40 in [[Ashkenazi Jewish]] population | |||
}} | |||
[[File:Autodominant_en.svg|left|thumb|Autodominant_en.svg]] [[File:BRCA_Genes.svg|left|thumb|BRCA_Genes.svg]] '''BRCA mutation''' | |||
A '''BRCA mutation''' is a mutation in either of the [[BRCA1]] and [[BRCA2]] genes, which are [[tumor suppressor genes]]. These genes produce proteins that help repair damaged [[DNA]], playing a role in ensuring the stability of a cell's genetic material. When either of these genes is mutated, DNA damage may not be repaired properly, and cells are more likely to develop additional genetic alterations that can lead to [[cancer]]. | A '''BRCA mutation''' is a mutation in either of the [[BRCA1]] and [[BRCA2]] genes, which are [[tumor suppressor genes]]. These genes produce proteins that help repair damaged [[DNA]], playing a role in ensuring the stability of a cell's genetic material. When either of these genes is mutated, DNA damage may not be repaired properly, and cells are more likely to develop additional genetic alterations that can lead to [[cancer]]. | ||
==Types of BRCA Mutations== | ==Types of BRCA Mutations== | ||
BRCA mutations can be inherited or acquired. Inherited mutations are passed from parents to their children and are present in all cells of the body. Acquired mutations occur in individual cells during a person's lifetime and are not passed on to the next generation. | BRCA mutations can be inherited or acquired. Inherited mutations are passed from parents to their children and are present in all cells of the body. Acquired mutations occur in individual cells during a person's lifetime and are not passed on to the next generation. | ||
===BRCA1=== | ===BRCA1=== | ||
The [[BRCA1]] gene is located on chromosome 17. Mutations in this gene are associated with a higher risk of developing [[breast cancer]], [[ovarian cancer]], and other types of cancer. | The [[BRCA1]] gene is located on chromosome 17. Mutations in this gene are associated with a higher risk of developing [[breast cancer]], [[ovarian cancer]], and other types of cancer. | ||
===BRCA2=== | ===BRCA2=== | ||
The [[BRCA2]] gene is located on chromosome 13. Mutations in this gene also increase the risk of breast and ovarian cancers, as well as other cancers such as [[pancreatic cancer]] and [[prostate cancer]]. | The [[BRCA2]] gene is located on chromosome 13. Mutations in this gene also increase the risk of breast and ovarian cancers, as well as other cancers such as [[pancreatic cancer]] and [[prostate cancer]]. | ||
==Associated Cancers== | ==Associated Cancers== | ||
Individuals with BRCA mutations have a significantly increased risk of developing certain types of cancer. These include: | Individuals with BRCA mutations have a significantly increased risk of developing certain types of cancer. These include: | ||
| Line 19: | Line 33: | ||
* [[Pancreatic cancer]] | * [[Pancreatic cancer]] | ||
* [[Melanoma]] | * [[Melanoma]] | ||
==Genetic Testing== | ==Genetic Testing== | ||
Genetic testing for BRCA mutations can help identify individuals at high risk for developing cancer. This information can be used to make informed decisions about preventive measures, such as increased surveillance, prophylactic surgeries, or chemoprevention. | Genetic testing for BRCA mutations can help identify individuals at high risk for developing cancer. This information can be used to make informed decisions about preventive measures, such as increased surveillance, prophylactic surgeries, or chemoprevention. | ||
==Management and Prevention== | ==Management and Prevention== | ||
For individuals with BRCA mutations, several strategies can be employed to manage and reduce cancer risk: | For individuals with BRCA mutations, several strategies can be employed to manage and reduce cancer risk: | ||
| Line 28: | Line 40: | ||
* Prophylactic surgeries, such as [[mastectomy]] and [[oophorectomy]]. | * Prophylactic surgeries, such as [[mastectomy]] and [[oophorectomy]]. | ||
* Chemoprevention with medications like [[tamoxifen]] or [[raloxifene]]. | * Chemoprevention with medications like [[tamoxifen]] or [[raloxifene]]. | ||
==Implications for Family Members== | ==Implications for Family Members== | ||
Since BRCA mutations are hereditary, family members of individuals with these mutations may also be at increased risk. Genetic counseling and testing are recommended for family members to determine their risk and consider appropriate preventive measures. | Since BRCA mutations are hereditary, family members of individuals with these mutations may also be at increased risk. Genetic counseling and testing are recommended for family members to determine their risk and consider appropriate preventive measures. | ||
==See Also== | ==See Also== | ||
* [[Breast cancer]] | * [[Breast cancer]] | ||
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* [[Tumor suppressor gene]] | * [[Tumor suppressor gene]] | ||
* [[Prophylactic surgery]] | * [[Prophylactic surgery]] | ||
==See also== | |||
== | |||
* [[BRCA1]] | * [[BRCA1]] | ||
* [[BRCA2]] | * [[BRCA2]] | ||
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* [[Tumor suppressor gene]] | * [[Tumor suppressor gene]] | ||
* [[Prophylactic surgery]] | * [[Prophylactic surgery]] | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
[[Category:Genetics]] | [[Category:Genetics]] | ||
Latest revision as of 18:24, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| BRCA mutation | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Increased risk of breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, melanoma |
| Complications | Cancer development |
| Onset | Varies, often detected in adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in BRCA1 or BRCA2 genes |
| Risks | Family history of breast cancer or ovarian cancer, Ashkenazi Jewish ancestry |
| Diagnosis | Genetic testing |
| Differential diagnosis | Other hereditary cancer syndromes |
| Prevention | Prophylactic surgery, chemoprevention, lifestyle modification |
| Treatment | Surveillance, surgery, chemotherapy, radiation therapy |
| Medication | N/A |
| Prognosis | Varies depending on cancer development and treatment |
| Frequency | 1 in 400 to 1 in 800 in the general population; 1 in 40 in Ashkenazi Jewish population |
| Deaths | N/A |
BRCA mutation
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumor suppressor genes. These genes produce proteins that help repair damaged DNA, playing a role in ensuring the stability of a cell's genetic material. When either of these genes is mutated, DNA damage may not be repaired properly, and cells are more likely to develop additional genetic alterations that can lead to cancer.
Types of BRCA Mutations[edit]
BRCA mutations can be inherited or acquired. Inherited mutations are passed from parents to their children and are present in all cells of the body. Acquired mutations occur in individual cells during a person's lifetime and are not passed on to the next generation.
BRCA1[edit]
The BRCA1 gene is located on chromosome 17. Mutations in this gene are associated with a higher risk of developing breast cancer, ovarian cancer, and other types of cancer.
BRCA2[edit]
The BRCA2 gene is located on chromosome 13. Mutations in this gene also increase the risk of breast and ovarian cancers, as well as other cancers such as pancreatic cancer and prostate cancer.
Associated Cancers[edit]
Individuals with BRCA mutations have a significantly increased risk of developing certain types of cancer. These include:
Genetic Testing[edit]
Genetic testing for BRCA mutations can help identify individuals at high risk for developing cancer. This information can be used to make informed decisions about preventive measures, such as increased surveillance, prophylactic surgeries, or chemoprevention.
Management and Prevention[edit]
For individuals with BRCA mutations, several strategies can be employed to manage and reduce cancer risk:
- Enhanced screening protocols, including more frequent mammograms and MRI scans.
- Prophylactic surgeries, such as mastectomy and oophorectomy.
- Chemoprevention with medications like tamoxifen or raloxifene.
Implications for Family Members[edit]
Since BRCA mutations are hereditary, family members of individuals with these mutations may also be at increased risk. Genetic counseling and testing are recommended for family members to determine their risk and consider appropriate preventive measures.
