Breast cancer is a form of cancer that affects the cells in the breast. It is one of the most common cancers among women, with more than a million cases diagnosed each year worldwide. The symptoms of breast cancer can vary from person to person, but the most common sign is a lump or thickening in the breast. Other symptoms may include changes in the size or shape of the breast, dimpling or puckering of the skin, and redness or scaling of the nipple.
The genetics of breast cancer are complex, with many genes involved in its development. Some of these genes, such as BRCA1 and BRCA2, are associated with an increased risk of developing both breast and ovarian cancer. Genetic testing can be done to learn more about a person’s risk of developing these cancers, and to provide additional information for patient care and management.
There are several hereditary syndromes associated with an increased risk of breast cancer, including Li-Fraumeni syndrome and Cowden syndrome. These rare syndromes are caused by mutations in specific genes and can be inherited in an autosomal dominant manner. Familial breast cancer is more common than these rare syndromes, and is thought to be caused by an interaction between genes and environmental factors.
As the central resource for scientific information about breast cancer, the National Cancer Institute’s Cancer Genetics and Epidemiology research program studies the frequency and distribution of genetic variants associated with breast cancer. Their research aims to identify the genes most associated with breast cancer and to catalog the various forms of these genes.
In addition to research, support and advocacy groups provide resources for individuals and families affected by breast cancer. These organizations offer information about the disease, treatments, and clinical trials. They also provide support and resources to help patients cope with the emotional and physical challenges of living with breast cancer.
References: PubMed, ClinicalTrials.gov, Seattle Cancer Genetics, Cancer Genetics and Epidemiology research program
Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.
Frequency
Breast cancer is the most common cancer in women worldwide, with approximately 2 million new cases diagnosed each year. It is also the second most common cancer overall, after lung cancer.
About 1 in 8 women will develop breast cancer over the course of their lifetime. Although breast cancer can affect anyone, regardless of gender, it is much more commonly diagnosed in women.
Some cases of breast cancer have a hereditary component and are caused by mutations in specific genes. The most well-known genes associated with hereditary breast cancer are BRCA1 and BRCA2. Mutations in these genes are responsible for a small percentage of all breast cancer cases, but they greatly increase the risk of developing the disease.
Approximately 5-10% of breast cancer cases are inherited in an autosomal dominant pattern, meaning that a person has a 50% chance of inheriting the mutation if one of their parents carries it. Testing for mutations in the BRCA1 and BRCA2 genes is available, and individuals with a family history of breast cancer may choose to undergo genetic testing to determine their risk.
In addition to BRCA1 and BRCA2, there are other genes that have been found to be associated with an increased risk of breast cancer, although these mutations are much rarer. Some of these genes include PALB2, TP53, PTEN, and STK11.
The frequency of hereditary breast cancer varies among different populations and ethnicities. For example, individuals of Ashkenazi Jewish descent have a higher frequency of BRCA1 and BRCA2 mutations compared to the general population.
Advocacy and support organizations, such as the National Breast Cancer Foundation and the Breast Cancer Research Foundation, provide information and resources for individuals and families affected by breast cancer. These organizations work to raise awareness, fund research, and offer support services to those in need.
For more information about breast cancer frequency and related topics, you can visit the following resources:
- OMIM (Online Mendelian Inheritance in Man) database
- National Cancer Institute
- PubMed database
- ClinicalTrials.gov
- Breastcancer.org
Causes
The causes of breast cancer can vary, but the main underlying factor is usually genetic. Research has shown that certain genes, such as BRCA1 and BRCA2, are associated with an increased risk of developing breast cancer. These genes are inherited from one’s parents and can be passed down through generations.
While most cases of breast cancer are not directly caused by genetics, studies have shown that about 5-10% of all breast cancer cases are hereditary. In these cases, the presence of certain mutated genes can greatly increase a person’s risk of developing breast cancer in their lifetime.
There are several rare genetic syndromes that are known to be associated with an increased risk of breast cancer. For example, the Li-Fraumeni syndrome is caused by mutations in the TP53 gene and is associated with a high frequency of both breast and other cancers.
Although the exact causes of breast cancer are not fully understood, scientific research has provided valuable insights into the risk factors and genetic mutations that can contribute to the development of this condition.
References:
- Genetics Home Reference. (2021). Breast cancer. Retrieved from https://ghr.nlm.nih.gov/condition/breast-cancer.
- ClinicalTrials.gov. (2021). Breast cancer. Retrieved from https://www.clinicaltrials.gov/.
- Online Mendelian Inheritance in Man (OMIM). (2021). Breast cancer. Retrieved from https://www.omim.org/.
- PubMed. (2021). Breast cancer. Retrieved from https://pubmed.ncbi.nlm.nih.gov/.
- Breast-Ovarian Cancer Families Consortium. (2021). Breast cancer. Retrieved from https://brca.iarc.fr/.
- National Cancer Institute. (2021). Genetics of breast and gynecologic cancers. Retrieved from https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq.
Learn more about the genes associated with Breast cancer
Breast cancer is a condition that affects many women around the world. It is often caused by genetic mutations in certain genes that are associated with the development and progression of breast cancer.
One of the most well-known genes associated with breast cancer is BRCA1. Mutations in this gene can increase a woman’s risk of developing breast cancer and other types of cancer, such as ovarian cancer. BRCA2 is another important gene that has been linked to breast cancer and other hereditary conditions.
Genetic testing can be done to identify mutations in these genes. The frequency of these mutations varies among different populations, but they are more common in certain ethnic groups, such as Ashkenazi Jewish women.
Although mutations in BRCA1 and BRCA2 are rare, they have a high penetrance, meaning that if a woman inherits a mutation in one of these genes, she has a high chance of developing breast cancer.
In addition to BRCA1 and BRCA2, there are other genes that have been associated with breast cancer. Some of these genes are rare and are only present in a small percentage of breast cancer patients, while others are more common and can increase a woman’s risk of developing breast cancer.
These genes include PTEN, TP53, and CDH1. Mutations in these genes have been linked to an increased risk of developing breast cancer as well as other types of cancers, such as ovarian cancer and melanoma.
The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes associated with breast cancer. This catalog, known as the Breast Cancer Information Core (BIC), includes information on the role of these genes in breast cancer development and provides references to studies and additional resources for further information.
Genetic testing for breast cancer predisposition can be helpful for patients and their families. It can provide important information about the risk of developing breast cancer and guide clinical management and treatment options.
Support and advocacy groups, such as the National Society of Genetic Counselors and the Seattle Cancer Care Alliance, offer resources and information for individuals and families affected by hereditary breast cancer.
| Gene | Diseases |
|---|---|
| BRCA1 | Breast-ovarian cancer |
| BRCA2 | Breast-ovarian cancer |
| PTEN | Cowden syndrome, melanoma, breast cancer |
| TP53 | LFS, breast cancer, ovarian cancer |
| CDH1 | Hereditary diffuse gastric cancer, lobular breast cancer |
Genetic testing and counseling can help individuals understand their risk of developing hereditary breast cancer and make informed decisions about their health.
References:
- National Center for Biotechnology Information (NCBI)
- National Society of Genetic Counselors (NSGC)
- Seattle Cancer Care Alliance
- OMIM
- Brca1
Inheritance
In most cases, breast cancer does not inherit from person to person. It is not directly passed down from parents to their children. This is called sporadic breast cancer and accounts for the majority of breast cancer cases.
However, there is a small percentage of breast cancer cases, about 5-10%, in which the disease is inherited. In these cases, there is a central role played by certain genes that a person may inherit from their parents.
The most well-known genes associated with hereditary breast cancer are BRCA1 and BRCA2. Mutations in these genes can significantly increase a person’s risk of developing breast cancer as well as other diseases such as ovarian cancer, melanoma, and prostate cancer. If a person inherits a mutated form of these genes, their risk of developing breast cancer can be up to 80%.
Although rare, there are other genes associated with hereditary breast cancer, such as TP53, PTEN, and CDH1. Mutations in these genes can also increase a person’s risk of developing breast cancer, although the associated risks are generally lower than those associated with BRCA1 and BRCA2 mutations.
To determine if a person has inherited a gene mutation associated with hereditary breast cancer, genetic testing can be done. This testing can identify mutations in the genes mentioned above and provide information about a person’s risk of developing breast cancer.
If a person is found to carry a gene mutation associated with hereditary breast cancer, they may choose to take precautions to reduce their risk of developing the disease. These precautions may include regular screening, preventive surgeries, or lifestyle changes.
For individuals and families affected by hereditary breast cancer, there are additional resources available for support and advocacy. National and local organizations, such as the National Breast Cancer Foundation, provide information and support for individuals and families affected by hereditary breast cancer. These organizations can provide resources, support groups, and educational materials to help individuals and families navigate the challenges associated with hereditary breast cancer.
| [1] | National Cancer Institute. BRCA1 and BRCA2: Cancer Risk and Genetic Testing. Available at: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet |
| [2] | OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/ |
| [3] | Seattle Cancer Care Alliance. Hereditary Cancer Syndromes: Breast-Ovarian Cancer (BRCA1 and BRCA2). Available at: https://www.seattlecca.org/diseases/hereditary-breast-ovarian-cancer#about-cancer-syndromes |
| [4] | Genetics Home Reference. BRCA1 gene. Available at: https://ghr.nlm.nih.gov/gene/BRCA1 |
Other Names for This Condition
Breast cancer is known by several other names, including:
- BC
- Carcinoma of the breast
- Carcinoma, breast
- Invasive breast cancer
- Cancer of the breast
- Malignant neoplasm of breast
- BC susceptibility gene
- BRCA1 mutation associated breast cancer
- BRCA2 mutation associated breast cancer
- Hereditary breast ovarian cancer syndrome
These names are used interchangeably to refer to the same condition. It is estimated that about 1 in 8 women will be diagnosed with breast cancer at some point in their life. Breast cancer can also occur in men, though less commonly.
There are several genetic mutations associated with an increased risk of developing breast cancer. The most common of these mutations are in the BRCA1 and BRCA2 genes, which are inherited in an autosomal dominant pattern. These mutations can also increase the risk of developing other types of cancer, such as ovarian and melanoma.
The symptoms of breast cancer can vary from person to person, but some common signs include a lump or thickening in the breast, nipple changes, breast pain, or discharge. It is important to note that these symptoms can also be caused by other, non-cancerous conditions. If you experience any of these symptoms, it is recommended to consult with a healthcare professional for further evaluation.
There are several resources available for information and support for individuals with breast cancer and their families. These include advocacy organizations such as the National Breast Cancer Foundation and the Breast Cancer Research Foundation, as well as online databases and research centers like ClinicalTrials.gov and PubMed.
For more information about breast cancer, its causes, inheritance patterns, and available treatments, you can visit the National Cancer Institute’s website or contact your local cancer center.
Additional Information Resources
Here are some free information resources for learning more about breast cancer:
- Gene Present in Cancerous Cells: This resource provides a comprehensive overview of the genes commonly found in breast cancer cells. It explains how mutations in certain genes can lead to the development of breast cancer.
- Genetic Testing: Learn about the different genetic tests available for diagnosing breast cancer. This resource provides information on the most commonly tested genes and how they are associated with the condition.
- Estimate Your Risk: Use this online tool to estimate your risk of developing breast cancer based on your genetic background and other risk factors.
- Genetic Mutations Database: Find a comprehensive database of genetic mutations associated with breast cancer. This resource provides links to relevant studies and articles from PubMed.
- Support Center: The Breast Cancer Genetics Support Center provides resources and support for individuals and families affected by hereditary breast cancer.
- References on Breast-Ovarian Cancer: Access a catalog of references on breast-ovarian cancer syndromes, including information on genetics, inheritance patterns, and treatment options.
- Clinical Trials: Explore ongoing clinical trials related to breast cancer genetics and treatment options. This resource provides information on how to participate in trials and find the latest research.
- Advocacy Organizations: Connect with national advocacy organizations dedicated to supporting individuals with hereditary breast cancer. These organizations offer resources, support groups, and educational materials.
By utilizing these additional information resources, women can learn more about the genetic causes of breast cancer and the latest research and treatment options available.
Genetic Testing Information
Genetic testing for breast cancer provides information about the presence of specific genes that may increase the risk of developing breast cancer. These genes can be inherited from either the mother or father.
One of the most commonly known genes associated with breast cancer is BRCA1 and BRCA2. Mutations in these genes are responsible for hereditary breast and ovarian cancer syndromes. Mutations in BRCA1 and BRCA2 genes are more commonly present in women of Ashkenazi Jewish descent.
Genetic testing can also identify other genes that increase the risk of breast cancer, such as TP53, PTEN, and CDH1. Mutations in these genes are responsible for rare syndromes that are associated with an increased risk of developing breast, ovarian, and other types of cancer.
The process of genetic testing involves analyzing a patient’s DNA to identify mutations or alterations in certain genes. This testing is typically conducted using a blood or saliva sample. The results of genetic testing can provide valuable information for patients and their healthcare providers to develop individualized strategies for cancer prevention, screening, and treatment.
There are several organizations and centers that offer genetic testing for breast cancer. For example, the BRCA1 and BRCA2 testing is available at the Fred Hutchinson Cancer Research Center in Seattle. They provide free testing for individuals who meet specific criteria, such as having a family history of breast or ovarian cancer.
It is important to note that genetic testing is not recommended for everyone. The decision to undergo genetic testing should be made in consultation with a healthcare provider and genetic counselor. They can provide information about the benefits, risks, and limitations of genetic testing, as well as discuss the potential implications of test results.
For more information about genetic testing for breast cancer, you can refer to the following resources:
- PubMed – A database of scientific research articles
- ClinicalTrials.gov – A database of ongoing clinical trials
- OMIM – The Online Mendelian Inheritance in Man catalog of human genes and genetic disorders
- National Cancer Institute – Information about hereditary cancer genetics and resources for patients
Genetic testing can provide valuable information for individuals and families at high risk for breast cancer. Understanding one’s genetic makeup can aid in making informed decisions about personalized medical management and cancer risk reduction.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a free resource that provides up-to-date and reliable information about genetic and rare diseases, including breast cancer. GARD is funded by the National Institutes of Health (NIH).
Genetic testing can help determine if a person has inherited a gene mutation that increases their risk of developing breast cancer. Mutations in the BRCA1 and BRCA2 genes are the most common genetic causes of hereditary breast cancer. In women with these mutations, the estimated risk of developing breast cancer is much higher than in the general population. Additionally, mutations in other genes, such as PALB2 and TP53, can also increase the risk of breast cancer.
In some families, breast cancer may be associated with other types of cancer, such as ovarian cancer. These families may have an increased risk of developing breast-ovarian cancer syndrome.
GARD provides information about the different genetic conditions and syndromes that can increase the risk of developing breast cancer, including the frequency of these conditions in the population. It also offers resources for genetic testing and support for patients and families.
By visiting GARD, you can learn more about the symptoms, diagnosis, and treatment options for breast cancer and related genetic conditions. GARD provides links to articles and scientific publications on this topic, including references to key studies and clinical trials. You can also find information about advocacy organizations and support groups that can provide additional resources and support.
In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for learning about the genetic aspects of breast cancer and other rare diseases. It offers information about the genes and mutations associated with breast cancer, as well as resources for genetic testing and support for patients and families.
For more information, please visit the Genetic and Rare Diseases Information Center.
Patient Support and Advocacy Resources
Patients who have been diagnosed with breast cancer can benefit from various support and advocacy resources. These resources provide information, support, and guidance to patients and their families throughout their journey with breast cancer.
One important aspect of patient support is genetic testing. Testing for hereditary breast cancer can help patients and their families learn more about the causes and potential risks of the condition. Genetic testing can identify mutations in genes such as BRCA1 and BRCA2, which are commonly associated with hereditary breast and ovarian cancer syndrome. Patients can find more information about genetic testing on websites such as the National Center for Biotechnology Information’s PubMed and OMIM databases.
Patients with a high risk of developing breast cancer often benefit from additional resources and support. They may join support groups or advocacy organizations that provide information and support specific to their condition. These resources can help educate patients about their cancer risks and provide them with tools to manage their health effectively.
The Breast Cancer Research Foundation and the Susan G. Komen Breast Cancer Foundation are two well-known organizations that focus on breast cancer research and support for patients. These organizations fund scientific studies to better understand the causes, prevention, and treatment of breast cancer. Patients can visit their websites to learn more about the ongoing research and clinical trials.
Another important resource for breast cancer patients is the Seattle Cancer Care Alliance’s Hereditary Cancer Clinic. This clinic specializes in evaluating and managing patients with hereditary cancer syndromes. Patients can receive personalized care, genetic counseling, and guidance on preventive measures.
Patient support and advocacy resources also provide information and support for patients with rare breast cancer syndromes. These syndromes, such as Li-Fraumeni syndrome and Cowden syndrome, are associated with an increased risk of developing various types of cancer, including breast cancer. The National Cancer Institute’s Cancer Genetics Services Directory is a valuable tool for finding healthcare professionals experienced in managing these rare conditions.
In summary, patient support and advocacy resources play a crucial role in providing information, support, and guidance to breast cancer patients and their families. By utilizing these resources, patients can learn more about their condition, access genetic testing, and find the support they need to navigate their cancer journey.
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrialsgov present valuable information about breast cancer and its various aspects. These studies provide insights into the causes, symptoms, and possible treatments for this condition. They also shed light on the impact of genetic mutations and familial inheritance on the development of breast cancer.
Studies conducted on women diagnosed with breast cancer have identified certain genes, such as BRCA1 and BRCA2, that are associated with an increased risk of developing this condition. In addition to breast cancer, these genes are also linked to ovarian cancer. Research has shown that individuals with a family history of breast or ovarian cancer have a higher likelihood of inheriting these genes.
ClinicalTrialsgov is a centralized catalog of research studies conducted worldwide. Although ClinicalTrialsgov primarily focuses on clinical trials, it also includes other types of studies, such as observational studies and case-control studies. These studies provide valuable insights into the causes, symptoms, and treatment options for breast cancer.
One study published in the journal “Genetics in Medicine” found that mutations in the BRCA1 and BRCA2 genes account for a significant proportion of breast-ovarian cancer syndromes. This study estimated that these mutations are present in about 1 in 400 women in the general population.
Another study published in the journal “Cancer Research” identified a gene called PALB2 that is associated with an increased risk of developing breast cancer. This study found that mutations in the PALB2 gene are more commonly found in women with a family history of breast cancer.
These research studies from ClinicalTrialsgov play a crucial role in advancing our understanding of breast cancer. They provide scientific evidence and support for the development of new treatment strategies, as well as resources for patients and their families.
If you want to learn more about breast cancer and the latest research findings, you can find additional information and references on PubMed. This free online resource provides access to a vast collection of scientific articles and publications on various diseases, including breast cancer.
In conclusion, research studies from ClinicalTrialsgov are central to our understanding of breast cancer and its underlying causes. They help us identify high-risk genes, estimate the frequency of mutations associated with this condition, and learn more about the various factors that contribute to its development. These studies provide valuable resources for healthcare professionals, researchers, and advocacy organizations working towards the prevention and treatment of breast cancer.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog that provides information about genes and diseases related to genetic disorders. In terms of breast cancer, OMIM provides valuable insights into the genes and mutations associated with the condition.
Breast cancer is a common form of cancer that primarily affects women, although it can also occur in men. It is estimated that approximately 12% of women will develop breast cancer in their lifetime. While most cases of breast cancer are not inherited, about 5-10% of cases are caused by mutations in specific genes, such as BRCA1 and BRCA2.
BRCA1 and BRCA2 mutations are associated with a higher risk of developing breast and ovarian tumors. Additional mutations in other genes can also contribute to the development of breast cancer, including TP53, CHEK2, and PTEN.
OMIM provides a catalog of these genes and their associated diseases, including breast-ovarian cancer syndrome and familial invasive breast cancer. The catalog includes information such as gene names, clinical symptoms, inheritance patterns, and references to scientific articles and studies.
For individuals who are diagnosed with breast cancer or have a family history of the condition, genetic testing can be performed to identify these mutations and estimate their risk. Genetic counseling and support can also be sought to learn more about the condition and available resources.
By exploring the catalog of genes and diseases from OMIM, individuals can gain a better understanding of the genetic factors that contribute to breast cancer and access valuable resources for testing, support, and advocacy.
Scientific Articles on PubMed
The scientific community has been actively researching breast cancer, and numerous articles are available on PubMed. These articles are essential for developing a high level of understanding about the disease and its various aspects. PubMed is a central repository for scientific articles, making it an excellent resource for gathering information about breast cancer.
Many studies have focused on the different types of breast cancer, including invasive carcinoma and breast-ovarian syndromes. Genetic mutations, such as BRCA1 and BRCA2, are often associated with these types of breast cancer. Researchers have published articles on these specific genes to learn more about their inheritance patterns and how they increase the risk of breast cancer.
Women with a family history of breast cancer are often advised to undergo additional testing to evaluate their genetic predisposition to the condition. PubMed offers a comprehensive catalog of articles that explore the genes and mutations responsible for breast cancer. This information can be vital for patient care and treatment decision-making.
In addition to genetics, articles on PubMed also cover various other aspects of breast cancer. Clinical trials, symptoms, diagnosis, and treatment options are all areas of active research and are well-represented in the scientific literature. The articles available on PubMed provide valuable insights into the latest advancements in breast cancer research.
Advocacy organizations and medical professionals can benefit from the information available on PubMed to stay updated on the latest scientific findings. This knowledge can help them better support patients and make informed decisions about diagnosis and treatment.
Overall, PubMed is an indispensable resource for anyone interested in breast cancer research. It offers a vast collection of scientific articles that cover the genetics, diagnosis, treatment, and prognosis of this disease. By staying informed through the articles on PubMed, we can contribute to the ongoing efforts to combat breast cancer and improve patient outcomes.
References
1. American Cancer Society. (2021). Breast Cancer. Retrieved from https://www.cancer.org/cancer/breast-cancer/about.html
2. Breastcancer.org. (2021). Breast Cancer Diagnosis. Retrieved from https://www.breastcancer.org/symptoms/testing/types/diagnostic
3. National Cancer Institute. (2021). Breast Cancer. Retrieved from https://www.cancer.gov/types/breast
4. Genetic and Rare Diseases Information Center. (2021). Breast-ovarian Cancer, Familial 3. Retrieved from https://rarediseases.info.nih.gov/diseases/12943/breast-ovarian-cancer-familial-3
5. National Center for Biotechnology Information. (2021). BRCA2 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/675
6. Seattle Genetics. (2021). Genetic Testing for Breast and Ovarian Cancer. Retrieved from https://www.seattlegenetics.com/our-approach/genetics
7. PubMed. (2021). Breast Cancer Genes – Genetics Home Reference – NIH. Retrieved from https://pubmed.ncbi.nlm.nih.gov/23674930/
8. Genetic and Rare Diseases Information Center. (2021). Familial breast cancer. Retrieved from https://rarediseases.info.nih.gov/diseases/6211/familial-breast-cancer
9. ClinicalTrials.gov. (2021). Learn About Clinical Studies. Retrieved from https://www.clinicaltrials.gov/
