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Is Metastatic Breast Cancer Genetic

Summary Of Treatment Options For Metastatic Breast Cancer

Genetic Testing and Metastatic Breast Cancer

Hormone receptor-positive, HER2-negative breast cancer

Hormonal therapy is considered the standard initial treatment for HER2-negative metastatic breast cancer that is also hormone receptor-positive, and is often given in combination with targeted therapy. However, chemotherapy may also be given. A clinical trial may also be an option for treatment at any stage.

Hormone receptor-negative, HER2-negative breast cancer

In general, chemotherapy or targeted therapy is given for treatment of triple-negative breast cancer. A clinical trial may also be an option for treatment at any stage.

HER2-positive breast cancer that has spread to parts of the body other than the brain

In general, HER2-targeted therapy is regularly added to treatment for HER2-positive breast cancer that has spread. The drugs used depend on the treatments already given and whether the cancer is hormone receptor-positive. The treatment recommendations for first-line, second-line, and third-line or higher treatment are listed below. A clinical trial may also be an option for treatment at any stage.

First-line treatment

Second-line treatment

  • Second-line treatment is used for people with early-stage breast cancer who had the cancer either spread during initial treatment with trastuzumab or return within 12 months after stopping treatment with trastuzumab. It is also used for people whose cancer worsens while receiving first-line treatment.

  • The preferred second-line treatment is the drug T-DM1.

Characterizations Of Cancer Gene Mutations In Chinese Metastatic Breast Cancer Patients

  • 1Department of Medical Oncology, Fudan University Shanghai Cancer Center, Shanghai, China
  • 2Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
  • 3Burning Rock Biotech, Guangzhou, China

Background: Breast cancer is a type of disease with high heterogeneity. Molecular profiling, by revealing the intrinsic nature of its various subtypes, has extensively improved the therapeutic management of BC patients. However, the genomic mutation landscape of Chinese metastatic BC has not been fully explored.

Methods: Matched plasma and mononuclear cells from 290 Chinese women with metastatic BC were sequenced using either of the two commercially-available panels consisting of 520 cancer-related and 108 BC-related genes. Both panels cover the same critical regions of 91 genes. The circulating tumor DNA mutation profile from our cohort was then compared with publicly-available metastatic BC datasets from Memorial Sloan Kettering Cancer Center and Pan-cancer analysis of whole genomes .

A distinct gene mutation profile was elucidated in Chinese women with metastatic BC, justifying further research. Liquid biopsy provides a quick, real-time, and minimally invasive tool for future clinical trial and routine practice.

Are We Close To A Cure

Every cancer is different, so finding a one-size-fits-all cure is unlikely anytime soon.

Research is targeting various methods, including gene editing, that have potential benefit for future treatments. Research is ongoing and new therapies are continually tested.

While living with metastatic breast cancer, there are ways to help improve your physical, emotional, and financial well-being.

In 2018, the released guidelines for improving the quality of life for people undergoing treatment.

The guidelines suggest the following steps:

  • Talk with your healthcare professional about managing pain and side effects from your treatment, such as nausea or fatigue, as well as other potential issues, like sexual health and fertility.
  • If youre experiencing depression or anxiety, check to see if a therapist or counselor is available at your cancer center, or join a breast cancer support group. Your healthcare team may have recommendations.
  • For help covering the cost of your treatment, talk with a financial counselor about assistance programs.

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Family History Of Breast Cancer

Family history and genetics are two risk factors for breast cancer. While researchers continue to search for the definite causes of breast cancer, some consider young women at high risk for breast cancer if they have either a strong family history of breast or ovarian cancer and/or genetic mutations associated with breast cancer.

All cancers come from genetic mutations. Usually, these happen in specific cells during a persons life. In some cases, however, people inherit mutations that can influence cancer. When these mutations help cause breast cancer, doctors call it hereditary breast cancer.

Hereditary breast cancer may be indicated by a strong family history of breast or ovarian cancer. This could mean two or more relatives with breast or ovarian cancer, a relative with both breast and ovarian cancer, a male relative with breast cancer or a relative diagnosed at a young age with breast cancer.

Can Hboc Be Avoided

Molecular Genetics of Metastatic Breast Cancer

There are options available for people with HBOC who are interested in having a child and reducing that childs risk of this hereditary syndrome. Preimplantation genetic diagnosis is a medical procedure done along with in-vitro fertilization . It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. For PGD, a womans eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and tested for the specific hereditary condition. The parents can then choose to transfer the embryos that do not have the mutation. PGD has been used for over 2 decades for several hereditary cancer syndromes. However, it is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.

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Understanding Your Risk Of Breast Cancer

Several breast cancer risk assessment tools have been developed to help a woman estimate her chance of developing breast cancer. The best studied is the Gail model, which is available on the National Cancer Institutes website at www.cancer.gov/bcrisktool. After you enter some personal and family information, including race/ethnicity, the tool provides you with a 5-year and lifetime estimate of the risk of developing invasive breast cancer. Because it only asks for information about breast cancer in first-degree family members and does not include their ages at diagnosis, the tool works best at estimating risk in women without a strong inherited breast cancer risk. For some women, other ways of determining the risk of breast cancer may work better. For example, women with a strong family history of breast cancer risk should consider talking to a genetic counselor.

It is important to talk with your doctor about how to estimate your personal risk of breast cancer and to discuss risk-reducing or prevention options .

Guidelines For Elective Surgical Options

Women with BRCA1 or BRCA2 mutations face a significant risk of breast and ovarian cancer. Prophylactic removal of the fallopian tubes and ovaries is recommended by about age 40. Many women with BRCA1 or BRCA2 mutations will also elect to have their breasts removed. Nipple-sparing mastectomy is an effective option for these women.

Making the decision to have an elective preventive double mastectomy and removal of the ovaries is personal and should be based on many life factors. You must balance where you are in your childbearing years, what your future choices may be, and whether you would prefer to follow a rigorous screening schedule instead of making such a life-altering choice.

Whatever your decision, we encourage you to make an informed choice. If you do elect to have a preventive double mastectomy, our breast specialists will guide you in the appropriate breast surgery reconstruction to help restore your body image after treatment.

If you are interested in discussing ovary removal surgery , we will refer you to one of our gynecological oncologists.

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What Do Brca1 And Brca2 Genetic Test Results Mean

BRCA1 and BRCA2 mutation testing can give several possible results: a positive result, a negative result, or a variant of uncertain significance result.

Positive result. A positive test result indicates that a person has inherited a known harmful variant in BRCA1 or BRCA2 and has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when the tested individual will develop cancer. Some people who inherit a harmful BRCA1 or BRCA2 variant never develop cancer.

A positive test result may also have important implications for family members, including future generations.

  • Both men and women who inherit a harmful BRCA1 or BRCA2 variant, whether or not they develop cancer themselves, may pass the variant to their children. Each child has a 50% chance of inheriting a parents variant.
  • All blood relatives of a person who has inherited a harmful BRCA1 or BRCA2 variant are at some increased risk of having the variant themselves. For example, each of that persons full siblings has a 50% chance of having inherited the variant as well.
  • Very rarely, an individual may test positive for a harmful variant not inherited from either parent. This is called a de novo variant. Such a variant is one that arose in a germ cell of one of the parents and is present in all the cells of the person who grew from that cell. The children of someone with a de novo variant are at risk of inheriting the variant.

Who Should Be Tested For Hboc

Genetic Testing: Metastatic Breast Cancer (MBC)

Most breast and ovarian cancers occur by chance with no known cause, so testing for BRCA1 or BRCA2 gene mutations may not be beneficial for the average person. Genetic testing is recommended primarily for people who have a personal and/or family history that suggests HBOC. However, women younger than 60 with triple-negative breast cancer , are at risk of having a BRCA mutation, regardless of family history.

For women with a previous diagnosis of breast cancer or ovarian cancer and/or a family history of breast or ovarian cancer, the National Comprehensive Cancer Network provides recommendations for when genetic counseling and testing may be needed. These recommendations are based on your familys history of cancer and how closely related you are to the person who developed cancer. Here are some important definitions to know:

  • “First-degree relatives” include parents, siblings, and children.

  • “Second-degree relatives” include aunts/uncles, grandparents, grandchildren, and nieces/nephews.

  • “Third-degree relatives” include first cousins, great-grandparents, or great-grandchildren.

Genetic testing should be considered if a person or family meets 1 or more of the criteria listed below:

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What Is Hereditary Breast And Ovarian Cancer

A diagnosis of Hereditary Breast and Ovarian Cancer Syndrome is considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. The chance that a family has HBOC increases in any of these situations:

  • 1 or more women are diagnosed at age 45 or younger

  • 1 or more women are diagnosed with breast cancer before age 50 with an additional family history of cancer, such as prostate cancer, melanoma, and pancreatic cancer

  • There are breast and/or ovarian cancers in multiple generations on the same side of the family, such as having both a grandmother and an aunt on the fathers side both diagnosed with these cancers

  • A woman is diagnosed with a second breast cancer in the same or the other breast or has both breast and ovarian cancers

  • A male relative is diagnosed with breast cancer

  • There is a history of breast cancer, ovarian cancer, prostate cancer, and/or pancreatic cancer on the same side of the family

  • Having Ashkenazi Jewish ancestry

Having Radiation To Your Chest

Women who were treated with radiation therapy to the chest for another cancer when they were younger have a significantly higher risk for breast cancer. This risk depends on their age when they got radiation. The risk is highest for women who had radiation as a teen or young adult, when the breasts were still developing. Radiation treatment in older women does not seem to increase breast cancer risk.

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Table Of Targeted And Immunotherapies For Breast Cancer

Name of drug

Other resources:

  • The American Cancer Society provides information and resources on covering the cost of cancer care. Public assistance, such as Medicaid may be available if you are ineligible for other programs.
  • The Lazarex Foundation provides financial support for people participating in clinical trials. Their programs include financial support for people with advanced cancer who need to travel to participate in a clinical trial.
  • Susan G. Komen partners with Cancercare to offer the Komen Treatment Assistance Program which bridges the gap for underserved individuals who are actively undergoing breast cancer treatment.
  • Needy Meds: Assistance programs to help patients with cost of medications and other healthcare.
  • Triage Cancer offers tools and resources to help individuals cope with the financial aspects of a cancer diagnosis.

The following clinical trials are focused on targeted or immunotherapies for people with an inherited mutation who have been diagnosed with breast cancer.

Breast cancer specific

Advanced solid tumors of any type, including breast cancer

What This Means For You

SOX30 represses tumor metastasis in vivo. (A

If you have been diagnosed with metastatic breast cancer and have never had genetic testing, its a good idea to talk to your doctor about it. Currently, there are two PARP inhibitors:

  • Talzenna
  • Lynparza

that can be used to treat metastatic HER2-negative breast cancer in people with a BRCA mutation.

DNA carries genetic information in both healthy cells and cancer cells. Cells can develop DNA damage spontaneously or from exposure to specific things in the environment that make DNA damage more likely to happen. But cells can detect and repair damage to DNA. When DNA is damaged in a healthy cell and the damage isn’t fixed, that cell can become cancerous. The function of the BRCA genes is to keep breast cells growing normally and prevent any cancer growth. But if there is a mutation in the BRCA1 or BRCA2 gene, it increases the risk of breast and other cancers because these gene mutations interfere with cells’ ability to repair damaged DNA.

The poly ADP-ribose polymerase enzyme fixes DNA damage in both healthy and cancer cells. Research has shown that PARP inhibitor medicines, which interfere with the PARP enzyme, make it even harder for cancer cells with a BRCA1 or BRCA2 mutation to fix DNA damage. This makes it harder for the cancer cells to survive. In other words, a PARP inhibitor makes some cancer cells less likely to survive their DNA damage.

If you have metastatic disease and dont have genetic testing, you may be missing out on treatment options that could benefit you.

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Understanding Your Risk For Breast Cancer

Breast cancer statistics say it’s the most common cancer in young adults ages 15 to 39. Every year in the U.S. alone more than 12,000 cases of breast cancer are diagnosed in adults under age 40. All young adults should be vigilant about their breast health. The information on this page will help you better understand breast cancer risk factors, manage your health, and connect to others at high risk.

Gene Signature Identifies Drivers Of Treatment Resistance In Metastatic Breast Cancer

Date:
Baylor College of Medicine
Summary:
A multi-institution team of researchers has discovered a genetic signature that can identify drivers of poor outcomes in advanced estrogen-receptor positive breast cancer, which could one day lead to personalized treatment for patients.

A multi-institution team of researchers led by scientists at Baylor College of Medicine has discovered a genetic signature that can identify drivers of poor outcomes in advanced estrogen-receptor positive breast cancer, which could one day lead to personalized treatment for patients.

The 24-gene signature detects the presence of mutations and translocations in the ER gene that confer the tumor the ability to grow independently from estrogen and therefore unsusceptible to current therapies directed at disrupting estrogen-fueled cancer growth. The findings, published in Cancer Research, a journal of the American Association for Cancer Research, provide a new strategy to refine breast cancer diagnosis that could help guide a more precise selection of tumor-specific treatments.

“About 80% of all breast cancers depend on the hormone estrogen to grow. The hormone promotes tumor growth by binding to the ER,” said corresponding author Dr. Matthew J. Ellis, professor and director of the Lester and Sue Smith Breast Center and a McNair scholar at Baylor.

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What Are The Estimated Cancer Risks Associated With Hboc

Cancer risks for women with HBOC

  • Lifetime risk of breast cancer 45% to 75%

  • Lifetime risk of ovarian cancer

    • BRCA1 gene mutation 25% to 40%

    • BRCA2 gene mutation 10% to 20%

  • Developing a second breast cancer 20% to 40%

Cancer risks for men with HBOC

  • Lifetime risk of breast cancer

    • BRCA1 gene mutation 1% to 2%

    • BRCA2 gene mutation 6%

    • BRCA1 gene mutation some increased risk

    • BRCA2 gene mutation 20%

  • Men with a BRCA2 gene mutation have a significantly increased risk of developing more aggressive prostate cancer before age 65 and therefore screening should begin at age 40.

What Can I Do To Reduce My Risk Of Developing Breast Cancer Or Ovarian Cancer If I Have A Brca Gene Mutation

Early Genetic and Biomarker Testing Led to Targeted Therapies

Risk-reducing surgery

A prophylactic, bilateral mastectomy, which is the preventive surgical removal of both breasts, can lower the risk of breast cancer by more than 90%. Only about 3% of breast cancers associated with BRCA mutations are diagnosed before age 30, so most women with a BRCA mutation could consider surgery after 30. However, bilateral mastectomy is an invasive and irreversible procedure.

A prophylactic salpingo-oophorectomy, which is the preventive surgical removal of the ovaries and fallopian tubes, can lower the risk of ovarian cancer by approximately 90%. It may also help lower the risk of breast cancer by 50% for women who have not been through menopause. A special procedure to look for microscopic cancer in the ovaries and fallopian tubes is recommended after this surgery. Deciding whether to have preventive surgery to lower your risk of developing breast or ovarian cancer is a very personal decision. Your health care team and genetic counselor can help you understand the risks and benefits, based on your health, type of BRCA mutation, and family history of cancer.

Chemoprevention

Taking oral contraceptives, or birth control pills, for 5 years may lower the risk of ovarian cancer for women with BRCA1 or BRCA2 mutations by up to 50%. However, this must be balanced by a potential slight increase in the risk of breast cancer. Learn more about risk reduction options in this site’s Ovarian Cancer section.

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