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Is Triple Negative Breast Cancer Genetic

What Is The Treatment For Triple

Ask the Expert: Triple Negative Breast Cancer

Chemotherapy.Chemotherapy is almost always called for, Sun says. Chemo can downstage tumors . While Sun says the chemotherapy for triple-negative breast cancer can be intense, she adds that regimen can be tailored to the individual and adjusted for older or frailer patients.

In those cases where we get complete response, we know we gave you the right medicine and your prognosis is good, Sun says.

Surgery can remove more of the tumor. Surgery for triple-negative breast cancer does not always have to be a mastectomy, Sun says. Effective chemotherapy done first opens up the possibility of less-invasive surgical options that are less of an ordeal for the patient. If the tumor is small enough after chemo, outpatient procedures or a lumpectomy may be possible.

Surgical samples of the cancerous tissues taken from surgery can provide more information on the cancer and how it is behaving so chemotherapy can be tailored accordingly.

Radiation therapy involves the use beams of radiation to destroy cancer cells, using various techniques to prevent damage to healthy surrounding tissue.

Medical treatments are being tested on triple-negative breast tumors in clinical trials.

Immunotherapy and PARP inhibitors are very exciting and theres lots of research going on, including here at Johns Hopkins, Sun says.

Survival Rates For Triple

Triple-negative breast cancer is considered an aggressive cancer because it grows quickly, is more likely to have spread at the time its found, and is more likely to come back after treatment than other types of breast cancer. The outlook is generally not as good as it is for other types of breast cancer.

Survival rates can give you an idea of what percentage of people with the same type and stage of cancer are still alive a certain amount of time after they were diagnosed. They cant tell you how long you will live, but they may help give you a better understanding of how likely it is that your treatment will be successful.

Keep in mind that survival rates are estimates and are often based on previous outcomes of large numbers of people who had a specific cancer, but they cant predict what will happen in any particular persons case. These statistics can be confusing and may lead you to have more questions. Talk with your doctor about how these numbers may apply to you, as they are familiar with your situation.

Analysis Of Gene Expression And Phosphoproteomic Analysis Data Identifies Unique Subtype

To better understand the transcriptional pathways driving TNBC subtypes, we performed pathway single-sample gene set variation analysis for differentially expressed genes across TNBC subtypes . The BL1-subtype displayed enrichment in MYC targets and cell cycle checkpoint pathways. The LAR-subtype exhibited enrichment in androgen response, fatty acid metabolism, and oxidative phosphorylation. Both the BL2- and M-subtypes were enriched in EMT and TGF- pathways. All subtypes, with the exception of the M-subtype, showed higher immune cell pathway enrichment .

To determine if these subtype-specific transcriptional pathways lead to active protein signaling, we analyzed RNA and protein levels from TNBC tumors in CPTAC . Overall, TNBC subtypes displayed similar protein pathway enrichment as RNA, with cell cycle enrichment in BL1 tumors, EMT and integrin pathways in BL2 and M tumors, and metabolic pathways enriched in LAR tumors . There was a consistent absence of immune cell markers and antigen presentation in M tumors . Together these analyses highlight the diversity of underlying biology and varying immune cell states in TNBC subtypes.

Fig. 2: Gene expression and phosphoproteomic analyses identify unique subtype-specific targetable pathways.

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What Is The Relative Survival Rate Of Breast Cancer

A relative survival rate compares women with the same type and stage of breast cancer to women in the overall population. For example, if the 5-year relative survival rate for a specific stage of breast cancer is 90%, it means that women who have that cancer are, on average, about 90% as likely as women who dont have that cancer to live

Reducing Your Risk Of Triple

Triple Negative Breast Cancer, " I Won

Its difficult to reduce your risk of triple-negative breast cancer because you cant control your age or your race. However, women who test positive for the BRCA1 or BRCA2 gene mutations may want to consider preventive mastectomy. It can reduce the risk of breast cancer in these women by about 97%. But it isnt an easy decision. There are many things to consider before moving forward with surgery. During genetic testing for breast cancer, you will explore the risks and benefits to help you decide if its right for you.

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Brca1 Mutation And Tnbc

BRCA1 is an acronym for BReast CAncer gene 1. Usually, this gene aids the suppression of cell growth.

Each person has two copies of the BRCA1 gene, one from their mother and one from their father.

BRCA1 makes a protein that suppresses the growth of tumors. It does this by stopping cells from growing too quickly and dividing at an out-of-control rate.

This gene also helps in the repair of damaged DNA. Damaged DNA may occur due to environmental agents or radiation therapy.

By repairing damaged DNA, the BRCA1 gene helps a cell maintain the genetic information it needs.

Some people may inherit a mutation in the BRCA1 gene from their mother or father. If a parent carries a mutation in the BRCA1 gene, the child has a 50% chance of inheriting it. This is known as an inherited mutation.

Those who inherit a mutation have a higher risk of some cancers, including ovarian cancer. However, they have a lifetime risk of developing breast cancer than the rest of the population.

In the United States,

Genetic testing is available to check for the BRCA1 mutation, but this is not necessary for the general public.

The National Comprehensive Cancer Network recommends that certain groups of people undergo genetic testing. These include:

  • individuals with a blood relative with a known mutation
  • those with specific family histories of cancer, including:
  • relatives who have had two or more cancers
  • relatives who received a cancer diagnosis at a young age
  • multiple types of cancer in the family

Can Her2 Be Used For Triple Negative Breast Cancer

Because hormone therapy and HER2 drugs are not choices for women with triple negative breast cancer, chemotherapy is often used. In cases where the cancer has spread to other parts of the body chemotherapy and other treatments that can be considered include PARP inhibitors, platinum chemotherapy, or immunotherapy.

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Pv Frequency In African American Tnbc Patients

PVs in TNBC genes were identified in 12.7% of 1271 African American TNBC patients, including 3.7% in non-BRCA genes . No major differences in the PV frequencies in genes between African American and Caucasian TNBC patients were observed . An exploratory casecontrol analysis of African American TNBC patients from the clinical cohort and gnomAD-AFR suggested that PVs in BRCA1, BRCA2, BARD1, and PALB2 were statistically significantly associated with high or moderate risk of TNBC . Similarly, RAD51C PVs were statistically significantly associated with very high risk of TNBC, although these findings will need to be replicated because of limited numbers of PVs in TNBC patients and control subjects. Small numbers of PVs in other genes yielded unstable estimates.

How Common Is Triple

Understanding the evolution of triple-negative breast cancer cells

Triple-negative is a less common type of breast cancer accounting for about 10-15% of all breast cancer cases. Its unique because it tends to affect younger women when compared with other breast cancers. Its also more common among women who are black and in women who have the BRCA1 genetic mutation.

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Is Triple Negative Breast Cancer A Defect

Dr. Couch: We think of triple negative breast cancer as having a defect in D NA repair, and our data suggests thats true. DNA repair gene mutations are more frequent in triple negative disease, which goes along with what we know about BRCA1 and BRCA2 mutations contributing to a higher risk of breast cancer. Our findings generate a whole new set of hypotheses about how triple negative breast cancer might be arising, which could give us better ideas for prevention or new therapies.

Absolute Risk Estimates For Breast Cancer And Tnbc

When combining OR estimates for Caucasian TNBC patients from the clinical cohort with age-adjusted subtype-specific incidence rates from the SEER registry, BRCA1 and PALB2 PVs were associated with 18% and 10% lifetime risks of TNBC, respectively, followed by BARD1 , BRCA2 , and RAD51D . Estimated TNBC risks contributed substantially to the overall breast cancer risks for genes known to confer greater than 20% lifetime risk for breast cancer and to estimated absolute risks of 26% for RAD51D and 21% in BARD1 . Similar exploratory studies based on the African American population within the clinical cohort suggested even greater contributions of TNBC risks to greater than 20% lifetime risk estimates for overall breast cancer for several genes .

Absolute risk estimates to age 85 for overall breast cancer and triple-negative breast cancer. A) Age-related risk curves for overall breast cancer for six genes are shown as colored lines. B) Age-related risk curves for TNBC for six genes are shown as colored dashed lines. TNBC = triple-negative breast cancer.

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What Percentage Of Breast Cancer Is Triple Negative

Triple-negative breast cancer accounts for about 10-15% of all breast cancers. The term triple-negative breast cancer refers to the fact that the cancer cells dont have estrogen or progesterone receptors and also dont make too much of the protein called HER2. These cancers tend to be more common in women younger than age 40, who are African American, or who have a BRCA1 mutation.

The Current Genetic Landscape Of Triple

Dr arun Triple Negative Breast cancer Presentation

Shuwei Li, Hsiao-Mei Lu, Mary Helen Black

Ambry Genetics

Correspondence to:

Received: 13 October 2018 Accepted: 29 October 2018 Published: 30 October 2018.

doi: 10.21037/jlpm.2018.10.04

Since the discovery of the BRCA1 and BRCA2 genes, multiple predisposition genes have been identified and included on genetic testing panels for breast cancer . In fact, breast cancer is now recognized as a heterogeneous disease with a complex genetic architecture . However, the full spectrum of genetic variation contributing to triple-negative breast cancer , an aggressive breast cancer subtype, has not yet been fully elucidated. TNBC, which accounts for 1025% of breast tumors, is characterized by absence of expression of the estrogen receptor , progesterone receptor and lack of amplification of the human epidermal growth factor receptor 2 . Patients with TNBC do not benefit from hormonal or anti-HER2 therapy, and exhibit high recurrence risk and poor survival rate in the first 5 years following diagnosis . TNBC patients usually have an early onset of disease and positive family history of breast and/or ovarian cancer, suggesting a strong association with genetic factors . Emerging studies also suggest TNBC may have a genetic risk profile different from other subtypes of breast cancer . Establishing the genetic landscape of TNBC and identifying actionable mutations may lead to better clinical management and therapy response prediction for this aggressive and difficult-to-treat subtype.

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Extensive Clinical Research Is Underway For Triple

Because there isnt a set pathway for treatment for triple-negative breast cancer patients, a lot of research is underway to try to find the best treatments for these patients.

Exciting research and clinical research trials are available in the Willamette Valley area in an effort to find new and better ways to care for triple-negative breast cancer patients.

Researchers Develop ‘goldilocks Drug’ To Treat Triple

by Mikayla Mace Kelley, University of Arizona

ABCDCancer Gene Therapy

After decades of research and two previous drug development attempts, things are looking promising for a team of University of Arizona researchers working on a less toxic treatment for a specific type of breast cancer.

The researchers have developed a drug compound that appears to stop cancer cell growth in what’s known as triple-negative breast cancer. The drug, which has not yet been tested in humans, has been shown to eliminate tumors in mice, with little to no effect on normal healthy cells, making it potentially nontoxic for patients.

The therapy is based on a newly discovered way that a gene known as epidermal growth factor receptor, or EGFR, leads to cancer. EGFR is a long-investigated oncogenea gene that in certain circumstances can transform a cell into a tumor cell.

The researchers’ findings are published in the journal Cancer Gene Therapy, and the team is working to get Food and Drug Administration approval to test the compound in phase 1 clinical trials in humans.

The UArizona researchers devised a compound that blocks EGFR from going to a part of the cell that drives survival of the cancer. The compound shuts down functioning of the EGFR protein that acts in cancer cells but not normal cells.

Often, drugs aren’t targeted enough in their attack and so they will attack parts of other, healthy cells, resulting in unwanted side effects. The researchers wanted to prevent that.

Explore further

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Risk Factors For Triple Negative Early Breast Cancer

Anyone can get triple negative breast cancer, however there are some things that increase a persons risk.

Having an inherited BRCA mutation

Everyone has BRCA1 and BRCA2 genes. These genes normally prevent cancers from developing. However if there is a fault, called a mutation, in one of these genes, it can increase a persons risk of developing breast cancer and other cancers including ovarian cancer and prostate cancer in men. These gene mutations can be passed down through families.

About 5-10% of all people diagnosed with breast cancer have an inherited BRCA1 or BRCA2 gene mutation.

A BRCA1 mutation is associated with a higher risk for triple negative breast cancer. Not all breast cancers caused by BRCA mutations are triple negative, however, and not all triple negative breast cancers are caused by inherited BRCA mutations.

BRCA2 mutations are more likely to be present in oestrogen receptor positive breast cancer.

If you have a strong family history of breast and/or ovarian cancer , it is possible that you and your relatives could carry a BRCA mutation. For more information on breast cancer and family history, visit thebreast cancer in the family section of this website.

Being premenopausal

Premenopausal women have a higher rate of triple negative breast cancer than postmenopausal women. Scientists do not yet understand why this is the case, however research is currently underway in this area.

Keep Up With Regular Breast Cancer Screening

Aggressive form of breast cancer linked to gene

One of the most important aspects of successful treatment is catching triple-negative breast cancer as early as possible. The earlier the stage, the higher the likelihood that treatment options will be successful.

Because most breast cancers dont cause symptoms its hard to know if there is a small lump developing deep in the breast. Thats why its really important to keep up with breast cancer screenings! If you dont have a family history or a known BRCA genetic mutation talk to your doctor about starting a mammogram schedule by age 40. If youre at a higher risk level due to genetics, talk to your doctor about starting breast cancer screening earlier.

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Can You Predict Cancer Survival

Keep in mind that survival rates are estimates and are often based on previous outcomes of large numbers of people who had a specific cancer, but they cant predict what will happen in any particular persons case. These statistics can be confusing and may lead you to have more questions. Talk with your doctor about how these numbers may apply to you, as he or she is familiar with your situation.

Breast Cancer Subtypes And Inherited Mutations

Cancers diagnosed in people with BRCA mutations often have specific characteristics:

  • 60% to 80% of the breast cancers in women with a BRCA1 mutation are triple negative, as discussed above.

  • 70% to 80% of the breast cancers in women with a BRCA2 mutation are estrogen receptor-positive, progesterone receptor-positive, and HER2-negative.

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Other Predisposition Genes Associated With Tnbc Phenotype

Many of the other genes involved in HR repair are now recognized to also contribute to hereditary breast and/or ovarian cancer risk, including ATM, BRIP1, CHEK2, NBN, PALB2, RAD51C, and RAD51D, while only limited evidence is available for BARD1, FANCM, MRE11A, and RAD50 . Notably, only BRCA1, BRCA2, PALB2, and FANCM have so far been associated with the TNBC phenotype : Approximately 66-70% of breast cancers arising in BRCA1 mutation carriers and up to 16-23% of breast cancers in BRCA2 carriers are triple-negative . A recent analysis of patients positive for PALB2 germline mutations revealed 34% being triple-negative. For FANCM, higher mutation frequencies were observed in TNBC cases versus breast cancer cases not selected for tumor phenotype . Other breast cancer risk genes such as CHEK2 and probably ATM are unlikely to predispose for TNBC . With the rise of next generation sequencing, germline testing is nowadays not restricted to BRCA1/2 and covers the above-named and further genes that predispose for rare cancer predisposition syndromes . Besides BRCA1/2, the study by Couch et al. analyzed 15 non-BRCA1/2‘ cancer predisposition genes . Deleterious mutations in non-BRCA1/2 genes were detected in only 3.7% of unselected TNBC patients, while PALB2 mutations prevailed .

Breast Cancer Removal Surgery

Tumor mutational profile of triple negative breast cancer patients in ...

Breast cancer removal surgery is almost always a part of the treatment process. However, your oncologist will work with your breast surgeon to decide if other treatments should be done first to reduce the size of the tumor before performing surgery. Your breast surgeon will recommend either

  • Lumpectomy: Also called breast-sparing surgery, the cancerous lump and a margin of tissue around it are removed. After this surgery, radiation is often performed to ensure targeted therapy to destroy any potential remaining cells. Other treatments such as chemotherapy may follow.
  • Mastectomy: A mastectomy is a removal of the entire breast. For BRCA+ patients, sometimes both breasts are removed since triple-negative breast cancer is more likely to return in the other breast than other types of cancer. This is a more extensive surgery but is particularly effective for many patients. Like lumpectomies, radiation may also be recommended following surgery as well as other treatments.

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