Breast Cancer Causes: Genetic Mutations

Breast cancer is the most common among cancers in women worldwide, with an estimated 2.3 million new cases diagnosed in 2020 alone. While there are many factors that can contribute to the development of breast cancer, one of the most important is genetics. Certain genetic mutations can significantly increase a person’s risk of developing Breast cancer is the most common cancer in women around the world, with about 2.3 million new cases expected to be found in 2020 alone. Even though there are many things that can lead to breast cancer, genes are one of the most important ones. Some changes in a person’s genes can make it much more likely that they will get breast cancer or another type of cancer. In this article, we will explore the most common genetic mutations associated with breast cancer risk, how they are inherited, and what can be done to manage that risk.

BRCA1 and BRCA2 Mutations

BRCA1 and BRCA2 are two of the most well-known genetic mutations associated with breast cancer risk. These genes produce proteins that help to suppress tumor growth, but mutations in these genes can disrupt this function and increase the risk of developing breast and ovarian cancer.

Breast cancer genes, such as BRCA1 and BRCA2, have been identified as major risk factors for invasive breast cancer. These genes are involved in regulating cell growth and repair, and when mutated, they can disrupt normal cellular processes in breast tissue. Mutations in these breast cancer genes can be inherited or acquired, and women with a family history of breast cancer are at higher risk. Other breast cancer risk factors include age, gender, lifestyle factors, and exposure to certain chemicals. Early detection through regular mammograms and other breast cancer screening methods is critical for improving outcomes for women with invasive breast cancer. As research continues to uncover new insights into the biology of breast cancer, identifying and understanding these risk factors will be critical for reducing the burden of this disease on women worldwide.

What is the definition and function of BRCA1 and BRCA2?

BRCA1 and BRCA2 are tumor suppressor genes, which means they produce proteins that help to regulate cell growth and division. Specifically, these proteins help to repair damaged DNA and prevent cells from growing and dividing too rapidly or uncontrollably. Mutations in these genes can interfere with the production of these proteins, leading to a higher risk of developing cancer.

What are the inheritance patterns of BRCA1 and BRCA2?

BRCA1 and BRCA2 mutations are inherited in an autosomal dominant pattern. This means that a person only needs to inherit a mutated copy of the gene from one parent to be at risk of developing cancer. A child of a parent with a BRCA1 or BRCA2 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of breast and ovarian cancer with BRCA1 and BRCA2 mutations?

Women with a BRCA1 or BRCA2 mutation have a significantly increased risk of developing breast and ovarian cancer. According to the National Cancer Institute, women with a BRCA1 or BRCA2 mutation have a:

• 55-72% chance of developing breast cancer by age 70 (compared to 12% in the general population)
• 44% chance of developing ovarian cancer by age 80 (compared to 1.3% in the general population)

Other cancers may also be associated with BRCA mutations, including prostate cancer in men.

What are screening and prevention options for people with BRCA1 and BRCA2 mutations?

Due to the increased risk of breast and ovarian cancer associated with BRCA mutations, women who carry a BRCA1 or BRCA2 mutation are typically advised to undergo increased surveillance and risk reduction measures.

Surveillance may involve more frequent mammograms and breast MRIs, as well as screening for ovarian cancer using blood tests and/or ultrasounds. In some cases, prophylactic surgery (such as mastectomy or oophorectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for BRCA1 and BRCA2 mutations?

Genetic testing is available to determine whether someone has a BRCA1 or BRCA2 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the genes. It is important to note that not everyone who is at risk of carrying a BRCA mutation will have one, and not everyone who has a BRCA mutation will develop cancer.

Genetic counseling and testing are typically recommended for people with a family history of breast or ovarian cancer, especially if multiple family members have been diagnosed with the disease at a young age. Genetic counseling is also recommended before and after testing to help individuals understand their risk, the implications of testing, and the options available for managing that risk.

While BRCA1 and BRCA2 are the most well-known genetic mutations associated with breast cancer risk, there are many other mutations that can also increase a person’s risk of developing the disease.

PALB2 Mutations

PALB2 (Partner and Localizer of BRCA2) is a gene that produces a protein that interacts with the BRCA2 protein to help repair damaged DNA. Mutations in PALB2 can increase the risk of developing breast cancer and may also increase the risk of pancreatic cancer.

What is the definition and function of PALB2?

PALB2 is a tumor suppressor gene that plays a role in repairing damaged DNA. It produces a protein that interacts with the BRCA2 protein to help repair double-stranded DNA breaks. Mutations in PALB2 can interfere with this function and increase the risk of developing breast cancer.

What are the inheritance patterns of PALB2?

PALB2 mutations are inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to be at risk of developing cancer. A child of two carriers of a PALB2 mutation has a 25% chance of inheriting the mutation.

Is there an increased risk of breast and ovarian cancer for people with a PALB2 mutation?

Women with a PALB2 mutation have a slightly increased risk of developing breast cancer. According to the National Cancer Institute, women with a PALB2 mutation have:

• 33% chance of developing breast cancer by age 70 (compared to 12% in the general population)

What are screening and prevention options for people with a PALB2 mutation?

Surveillance may involve more frequent mammograms and breast MRIs. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for a PALB2 mutation?

Genetic testing is available to determine whether someone has a PALB2 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying a PALB2 mutation will have one, and not everyone who has a PALB2 mutation will develop cancer.

TP53 Mutations

TP53 is a gene that produces a protein called p53, which helps to regulate cell growth and prevent the development of tumors. Mutations in TP53 can interfere with the function of p53 and increase the risk of developing various types of cancer, including breast cancer.

What is the definition and function of TP53?

TP53 is a tumor suppressor gene that produces a protein called p53. This protein helps to regulate cell growth and prevent the development of tumors by responding to DNA damage and other cellular stresses. Mutations in TP53 can interfere with the function of p53, leading to a higher risk of developing cancer.

What are the inheritance patterns of TP53?

TP53 mutations are inherited in an autosomal dominant pattern. A child of a parent with a TP53 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of breast cancer for people with a TP53 mutation?

Women with a TP53 mutation have an increased risk of developing various types of cancer, including breast cancer. According to the National Cancer Institute, women with a TP53 mutation have:

• 49% chance of developing breast cancer by age 70 (compared to 12% in the general population)
• Increased risk of other cancers, including brain, bone, and soft tissue tumors

What are screening and prevention options for people with a TP53 mutation?

Surveillance may involve more frequent mammograms and breast MRIs, as well as screening for other types of cancer. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for a TP53 mutation?

Genetic testing is available to determine whether someone has a TP53 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying a TP53 mutation will have one, and not everyone who has a TP53 mutation will develop cancer.

CHEK2 Mutations

CHEK2 is a gene that produces a protein called checkpoint kinase 2, which helps to regulate cell growth and division. Mutations in CHEK2 can interfere with this function and increase the risk of developing breast cancer.

What is the definition and function of CHEK2?

CHEK2 is a checkpoint kinase that helps to regulate cell growth and division. It produces a protein that responds to DNA damage and other cellular stresses to prevent the development of tumors. Mutations in CHEK2 can interfere with the function of this protein, leading to a higher risk of developing cancer.

What are the inheritance patterns of CHEK2?

CHEK2 mutations are inherited in an autosomal dominant pattern. A child of a parent with a CHEK2 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of breast cancer for people with a CHEK2 mutation?

Women with a CHEK2 mutation have a moderately increased risk of developing breast cancer. According to the National Cancer Institute, women with a CHEK2 mutation have a:

• 20-30% chance of developing breast cancer by age 80 (compared to 12% in the general population)

What are screening and prevention options for people with a CHEK2 mutation?

Surveillance may involve more frequent mammograms and breast MRIs. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for a CHEK2 mutation?

Genetic testing is available to determine whether someone has a CHEK2 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying a CHEK2 mutation will have one, and not everyone who has a CHEK2 mutation will develop cancer.

ATM Mutations

ATM is a gene that produces a protein called ataxia-telangiectasia mutated, which helps to regulate cell growth and division. Mutations in ATM can interfere with this function and increase the risk of developing breast cancer.

What is the definition and function of ATM?

ATM is a protein kinase that helps to regulate cell growth and division. It produces a protein that responds to DNA damage and other cellular stresses to prevent the development of tumors. Mutations in ATM can interfere with the function of this protein, leading to a higher risk of developing cancer.

What are the inheritance patterns of ATM?

ATM mutations are inherited in an autosomal dominant pattern. A child of a parent with an ATM mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of breast cancer for people with an ATM mutation?

Women with an ATM mutation have a moderately increased risk of developing breast cancer. According to the National Cancer Institute, women with an ATM mutation have a:

• 14-29% chance of developing breast cancer by age 70 (compared to 12% in the general population)

What are screening and prevention options for people with an ATM mutation?

Surveillance may involve more frequent mammograms and breast MRIs. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for an ATM mutation?

Genetic testing is available to determine whether someone has an ATM mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying an ATM mutation will have one, and not everyone who has an ATM mutation will develop cancer.

PTEN Mutations

PTEN is a gene that produces a protein called phosphatase and tensin homolog, which helps to regulate cell growth and division. Mutations in PTEN can interfere with this function and increase the risk of developing breast, thyroid, and other types of cancer.

What is the definition and function of PTEN?

PTEN is a tumor suppressor gene that produces a protein called phosphatase and tensin homolog. This protein helps to regulate cell growth and division by suppressing a signaling pathway that promotes cell growth. Mutations in PTEN can interfere with the function of this protein, leading to a higher risk of developing cancer.

What are the inheritance patterns of PTEN?

PTEN mutations are inherited in an autosomal dominant pattern. A child of a parent with a PTEN mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of breast, thyroid, and other cancers for people with a PTEN mutation?

People with a PTEN mutation have an increased risk of developing various types of cancer, including breast and thyroid cancer. According to the National Cancer Institute, people with a PTEN mutation have a:

• 85% chance of developing breast cancer by age 70 (compared to 12% in the general population)
• Increased risk of other cancers, including thyroid and endometrial cancer

What are screening and prevention options for people with a PTEN mutation?

Surveillance may involve more frequent mammograms and breast MRIs, as well as screening for thyroid and other types of cancer. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for a PTEN mutation?

Genetic testing is available to determine whether someone has a PTEN mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying a PTEN mutation will have one, and not everyone who has a PTEN mutation will develop cancer.

CDH1 Mutations

CDH1 is a gene that produces a protein called cadherin-1, which helps to maintain the structure of cells in tissues such as the breast and stomach. Mutations in CDH1 can interfere with this function and increase the risk of developing hereditary diffuse gastric cancer syndrome and breast cancer.

What is the definition and function of CDH1?

CDH1 is a gene that produces a protein called cadherin-1. This protein helps to maintain the structure of cells in tissues such as the breast and stomach by allowing cells to stick together. Mutations in CDH1 can interfere with the function of this protein, leading to a higher risk of developing hereditary diffuse gastric cancer syndrome and breast cancer.

What are the inheritance patterns of CDH1?

CDH1 mutations are inherited in an autosomal dominant pattern. A child of a parent with a CDH1 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of hereditary diffuse gastric cancer syndrome and breast cancers for people with a CDH1 mutation?

People with a CDH1 mutation have an increased risk of developing hereditary diffuse gastric cancer syndrome, which is a rare type of stomach cancer. They also have an increased risk of developing lobular breast cancer, which is a type of breast cancer that begins in the milk-producing glands.

What are screening and prevention options for people with a CDH1 mutation?

Surveillance may involve regular endoscopies to screen for stomach cancer, as well as more frequent mammograms and breast MRIs, to screen for breast cancer. In some cases, prophylactic surgery (such as mastectomy or gastrectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for a CDH1 mutation?

Genetic testing is available to determine whether someone has a CDH1 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying a CDH1 mutation will have one, and not everyone who has a CDH1 mutation will develop cancer.

STK11 Mutations

STK11 is a gene that produces a protein called serine/threonine kinase 11, which helps to regulate cell growth and division. Mutations in STK11 can interfere with this function and increase the risk of developing Peutz-Jeghers syndrome and breast cancer.

What is the definition and function of STK11?

STK11 is a serine/threonine kinase that helps to regulate cell growth and division. It produces a protein that responds to cellular stresses to prevent the development of tumors. Mutations in STK11 can interfere with the function of this protein, leading to a higher risk of developing cancer.

What are the inheritance patterns of STK11?

STK11 mutations are inherited in an autosomal dominant pattern. A child of a parent with an STK11 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of Peutz-Jeghers Syndrome and Breast Cancer for people with a STK11 mutation?

People with an STK11 mutation have an increased risk of developing Peutz-Jeghers syndrome, which is a rare genetic disorder characterized by the development of benign growths in the digestive tract and an increased risk of developing certain types of cancer. They also have an increased risk of developing breast cancer.

What are screening and prevention options for people with an STK11 mutation?

Surveillance may involve regular colonoscopies to screen for polyps and other growths in the digestive tract, as well as more frequent mammograms and breast MRIs to screen for breast cancer. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for an STK11 mutation?

Genetic testing for breast cancer is available to determine whether someone has an STK11 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying an STK11 mutation will have one, and not everyone who has an STK11 mutation will develop cancer.

NF1 Mutations

NF1 is a gene that produces a protein called neurofibromin 1, which helps to regulate cell growth and division. Mutations in NF1 can interfere with this function and increase the risk of developing neurofibromatosis type 1 and breast cancer.

What is the definition and function of NF1?

NF1 is a gene that produces a protein called neurofibromin 1. This protein helps to regulate cell growth and division by suppressing a signaling pathway that promotes cell growth. Mutations in NF1 can interfere with the function of this protein, leading to a higher risk of developing neurofibromatosis type 1 and breast cancer.

What are the inheritance patterns of NF1?

NF1 mutations are inherited in an autosomal dominant pattern. A child of a parent with an NF1 mutation has a 50% chance of inheriting the mutation.

Is there an increased risk of Neurofibromatosis Type 1 and Breast Cancer for people with an NF1 mutation?

People with an NF1 mutation have an increased risk of developing neurofibromatosis type 1, which is a rare genetic disorder characterized by the development of benign growths in the nervous system and other parts of the body. They also have an increased risk of developing breast cancer.

What are screening and prevention options for people with an NF1 mutation?

Surveillance may involve regular MRIs to screen for growths in the nervous system and other parts of the body, as well as more frequent mammograms and breast MRIs to screen for breast cancer. In some cases, prophylactic surgery (such as mastectomy) may be recommended to reduce the risk of developing cancer.

Is there genetic testing for an NF1 mutation?

There are genetic tests available to determine whether someone has an NF1 mutation. The test involves analyzing a sample of blood or saliva to look for changes or abnormalities in the gene. It is important to note that not everyone who is at risk of carrying an NF1 mutation will have one, and not everyone who has an NF1 mutation will develop cancer.

Conclusion

Genetic mutations play an important role in the development of breast cancer. In some cases, gene mutations can be inherited and increase the likelihood that an individual will develop breast cancer over their lifetime. Those who have a family history of breast cancer or who have other risk factors should consider genetic testing to determine whether they carry a mutation that increases their risk of developing hereditary breast cancer. By identifying these mutations, patients can take steps to reduce their risk of developing breast cancer through increased surveillance, prophylactic surgery, and other interventions.

At Texas Breast Center, we offer advanced, personalized, and targeted approaches to breast cancer care, including genetic testing and counseling, to help our patients make informed decisions about their health. Our team of expert breast surgeons, oncologists, and other healthcare professionals is dedicated to providing comprehensive care and support throughout every stage of the breast cancer journey. We understand that a breast cancer diagnosis can be overwhelming, and we are here to help guide our patients through the process with compassion, expertise, and a focus on personalized care.

If you have questions about genetic mutations and breast cancer or are interested in learning more information about our breast cancer services, please don’t hesitate to contact Texas Breast Center to schedule a consultation. We are committed to helping our patients achieve the best possible outcomes and live their lives to the fullest.

See the other articles in the Causes series, including Family History Risks