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Is Her2 Positive Breast Cancer Hereditary

What Are The Screening Options For Hboc

Dr. McCann on Prognosis for Patients With HER2-Positive Breast Cancer

Screening is the use of different tests to find specific types of cancer before signs and symptoms appear. It is important to talk with your health care team about the following screening options, as each person is different:

Screening for women with a BRCA1 or BRCA2 gene mutation

  • Monthly breast self-examinations, beginning at age 18

  • Clinical breast examinations performed twice a year by a health care team or nurse, beginning at age 25

  • Yearly magnetic resonance imaging scans of both breasts, between ages 25 and 29.

  • Yearly mammogram and breast MRI, between ages 30 and 75.

  • Pelvic examination, trans-vaginal ultrasound, and CA-125 blood test every 6 months, beginning at age 30 to 35. It should be noted, however, that screening is not yet able to find most early ovarian cancers.

  • Consideration of prophylactic salpingo-oophorectomy, between ages 35 and 40, and once a woman is done giving birth to children

Screening for men with a BRCA1 or BRCA2 gene mutation

Screening options may change over time as new methods are developed and more is learned about HBOC. Talk with your health care team about appropriate screening tests for you.

Learn more about what to expect when having common tests, procedures, and scans.

Having A Family History Of Breast Cancer

Its important to note that most women who get breast cancer do not have a family history of the disease. But women who have close blood relatives with breast cancer have a higher risk:

  • Having a first-degree relative with breast cancer almost doubles a womans risk. Having 2 first-degree relatives increases her risk by about 3-fold.
  • Women with a father or brother who has had breast cancer also have a higher risk of breast cancer.

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.

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Treatment Options For Her2 Positive Breast Cancer Tumors

Treating doctors will usually offer women with HER-2 positive breast treatment with Trastuzumab .

Indeed, this is the only therapy that the US Food and Drug Administration approvesfor women with breast cancer tumors over-expressing HER-2 proteins.

It is often the case that women with HER2 breast cancer tumors do not respond to Tamoxifen therapy.

But, the use of trastuzumab in combination with chemotherapy has led to longer survival rates for women with metastatic HER-2 positive breast carcinomas.

The addition of Herceptin when HER-2 is positive gives an amazing boost to the response and cure rates.

Other Cancer Risks For People With Hboc


Anyone with mutations in the BRCA2 gene may be at an increased risk of other types of cancer, including melanoma and pancreatic, stomach, esophageal, and bile duct cancers.Mutations in other genes may be associated with an increased risk of developing breast and other cancers, including the Li-Fraumeni syndrome , Cowden syndrome, and others. The pattern of cancers in the family is often a clue to the specific gene that may explain the hereditary cancer for that family. Multigene panels are available for people with a strong personal and family history of cancer. Multigene panel tests include BRCA1 and BRCA2 and many other genes that increase the risk of breast, ovarian, and other cancers. If your BRCA1 and BRCA2 test was negative, then you may or may not have mutations in other genes. A newer type of testing, called next generation sequencing, massively parallel sequencing, or deep sequencing, has made testing for multiple genes at the same time faster and less expensive. If a genetic mutation is found, this could explain the cancers in a specific family and provide information about who is at risk and the appropriate types of monitoring and prevention/risk reduction methods.

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How Common Is Hboc

Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC.

Currently, it is estimated that less than 1% of the general population has a mutation in the BRCA1 or BRCA2 genes, and up to 10% of women and 20% of men diagnosed with breast cancer have a mutation in 1 of these genes. About 10% to 30% of women younger than 60 diagnosed with triple-negative breast cancer, which are cancers that do not have receptors for estrogen, progesterone, and HER2, have a BRCA1 or BRCA2 gene mutation, and others will have mutations in other breast cancer risk genes. Therefore, doctors recommend that women with triple-negative breast cancer receive genetic counseling and genetic testing .

HBOC is most common in families who have had multiple cases of breast cancer and/or ovarian cancer on the same side of the family. In families with 4 or more cases of breast cancer diagnosed before age 60, the chance of HBOC is about 80%. To compare, the chance of finding HBOC when only 1 woman has had breast cancer diagnosed before age 50 is estimated to be 10% or less.

Families with Ashkenazi Jewish ancestry have an increased chance of having HBOC. There are 3 specific gene mutations, known as founder mutations, that are common in these families:

  • 185delAG in BRCA1

  • 5382insC in BRCA1

  • 6174delT in BRCA2

Having Certain Benign Breast Conditions

Women diagnosed with certain types of benign breast conditions may have a higher risk of breast cancer. Some of these conditions are more closely linked to breast cancer risk than others. Doctors often divide benign breast conditions into different groups, depending on how they affect this risk.

Non-proliferative lesions: These conditions dont seem to affect breast cancer risk, or if they do, the increase in risk is very small. They include:

  • Fibrosis and/or simple cysts
  • Mild hyperplasia
  • Epithelial-related calcifications
  • Other tumors

Mastitis is not a tumor and does not increase the risk of breast cancer.

Proliferative lesions without atypia : In these conditions theres excessive growth of cells in the ducts or lobules of the breast, but the cells don’t look very abnormal. These conditions seem to raise a womans risk of breast cancer slightly. They include:

  • Usual ductal hyperplasia
  • Fibroadenoma
  • Several papillomas
  • Radial scar

Proliferative lesions with atypia: In these conditions, the cells in the ducts or lobules of the breast tissue grow excessively, and some of them no longer look normal. These types of lesions include:

Breast cancer risk is about 4 to 5 times higher than normal in women with these changes. If a woman also has a family history of breast cancer and either hyperplasia or atypical hyperplasia, she has an even higher risk of breast cancer.

Lobular carcinoma in situ

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It’s A Hopeful Time For Her2

If you or a loved one are diagnosed with this cancer, remember this: There are more effective treatments available than ever. The big take-home point about HER2-positive tumors is that while this is very aggressive tumor, these very targeted treatments are incredibly effective, Dr. Kulkarni says. So while prognosis used to be poor, with the introduction of targeted treatments and more to come, people see much better outcomes, she says. Its very exciting times for HER2-positive breast cancer research, Dr. Czerniecki says.

Changes In Her2 Status After Neoadjuvant Chemotherapy

Health Tips – HER2-Positive Breast Cancer

Neoadjuvant chemotherapy is currently considered as standard treatment for locally advanced breast cancer . Alteration of biomarker status after NAC is occasionally found in breast cancer . Hormone receptor status changed more often than HER2 status, and as for hormone receptors, positive to negative conversion was more common than negative to positive conversion . The frequency of HER2 change after NAC is reported in up to 15%, and both positive to negative conversion and negative to positive conversion were found with no preponderance . Previous studies on HER2 change after NAC are summarized in . In our study, HER2 status was altered after NAC in 3.4% with positive to negative conversion in 0.9% and negative to positive conversion in 2.5% . Most cases with negative to positive conversion of HER2 status after NAC showed low level of HER2 amplification, and the HER2/CEP17 ratio ranged from 2.2 to 4.4 . Cockburn et al. also reported the mean HER2/CEP17 ratio in resection specimens with HER2 positive conversion was 3.7. Although there are no guidelines about whether treatment should be modified based on altered biomarker status after NAC, the change of HER2 status may have an impact on the therapeutic management in certain patients. Accordingly, re-evaluation of biomarkers including HER2 after NAC is recommended for proper management.

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Changes In Guidelines On Interpretation Of Her2 Status

For uniformity in accuracy and reproducibility of HER2 testing in breast cancer, ASCO/CAP jointly released guidelines and recommendations for HER2 testing first in 2007, addressing a wide range of pre-analytic, analytic and post-analytic variables . This guideline focused on limiting the false-positive results, adopting a higher cutoff of 30% for HER2 IHC positivity , instead of 10% cutoff previously recommended by FDA . For FISH analysis, HER2 gene was regarded as amplified if HER2/chromosome enumeration probe 17 ratio > 2.2 for dual-probe assay or HER2 gene copy > 6 signals per cell for single-probe assay.

Why Is Her2 Testing Important

Itâs important to know your HER2 status because doctors often recommend different therapies for HER2-positive breast cancer and HER2-negative breast cancer.

For instance, doctors treat many HER2-positive cancers with the medicine trastuzumab , which attaches to extra HER2 proteins and stops cancer growth.

Experts recommend that all people with invasive breast cancer be tested for HER2. Routine testing usually isnât done for a noninvasive type of breast cancer called ductal carcinoma in situ.

If your breast cancer returns or spreads, your doctor may retest the cells for HER2 abnormalities because results can change.

If you have breast cancer and donât know your HER2 status, talk to your doctor.

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Researchers Develop Additional Her2

Despite these successes, many women with breast cancer dont benefit from current HER2-targeted treatments, or they become resistant to the effects of these drugs after initial treatment.

Therefore, researchers continue to test new or modified drug combinations. For example, in 2012, FDA approved pertuzumab as a treatment for women with HER2-positive metastatic breast cancer to be used in combination with trastuzumab and docetaxel , a chemotherapy drug. In 2017, pertuzumab received approval for use in combination with the same drugs as an adjuvant treatment for patients with HER2-positive early breast cancer at high risk of recurrence. Pertuzumab works by blocking HER2 from sending signals to other proteins that cause cells to grow and replicate.

Sensitivity To Dual Her2 Blockade

Treatments for HER2

Nowadays, an area with great interest for the oncologist community is to identify what patients might be treated with a regimen based on dual HER2 blockade without chemotherapy. It has been presented results of several neoadjuvant studies, which submit that a subgroup of patients with HER2+ BC are especially sensitive to the dual HER2 blockade, achieves pCR rates around 70%, so that could potentially be treated without chemotherapy .

The HER2-E breast tumors are driven by HER2/EGFR signaling, such as it showed, through a silico and omyc analyses, in the TCGA breast cancer project . So, this intrinsic subtype should benefit the most from anti-HER2 dual-blockade. The benefit achieved in HER-negative BC with HER2-E intrinsic subtype can be explained because these tumors preserve the higher expression of EGFR, with independence of expression degree of hormonal receptors . However, the greater response rate in the HER2-E subtype in previous studies could not distinguish anti-HER2 sensitivity vs. cytotoxic therapy-sensitivity. HER2-E subtype could be a predictor itself of anti-HER2 therapy benefit, and this theory should be validated in future randomized trials. If this happened, this intrinsic subtype could help to select a group of patients with HER2+ BC that might be cured with anti-HER2 drugs without chemotherapy, or patients with metastatic disease that can be treated with less intensive treatment, such as dual HER2 blockade-only.

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Why Do I Need Her2 Breast Cancer Testing

If you’ve been diagnosed with breast cancer, you may need this test to find out if your cancer is HER2-positive or HER2-negative. If you are already being treated for HER2-positive breast cancer, you may need this test to:

  • Find out if your treatment is working. Normal levels of HER2 may mean you are responding to treatment. High levels may mean the treatment is not working.
  • Find out if cancer has come back after treatment.

Below Are Some Q& as On Her2 Positive Breast Cancer:

What are the treatment options for HER2 positive breast cancer?

Treatments that specifically target HER2 are very effective. These treatments are so effective that the prognosis for HER2 positive breast cancer is actually quite good.

These treatments include:-

  • Pertuzumab
  • Ado-trastuzumab emtansine .

In addition, there are several new medications that also target HER2. Dont forget, treatment and research is developing all the time.

Why is HER2 status testing done?

HER2 status testing is done to find out the amount of HER2 produced by a tumor. HER2 status testing can vary across Canada. It is mostly done with breast cancer tumors but may also be done with advanced stomach cancers as well.

HER2 status testing for breast cancer may be done on the main breast cancer tumor at the time of diagnosis. HER2 status may be done in combination with hormone receptor status testing or if the breast cancer recurs or metastasizes.

How is HER2 testing done?

HER2 status testing is done on a tumor sample taken with a biopsy. Testing can be also done on stored tumor tissue. There are 3 techniques that can be used to determine HER status. These include:-

  • Immunohistochemitry

A HER2 blood test is also available, but it is not a substitute for tissue testing.

What do the results mean?

Results of HER2 status testing are reported as HER2 positive the cancer cells are overexpressing HER2 OR HER2 negative the cancer cells are not overexpressing HER2.

Other important HER2 status information

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Immunohistochemistry Criteria: Past Present And Future

The HER2 status assessment was establishment by The American Society of Clinical Oncology and the College of American Pathologists , with the publication of guidelines with recommendations for testing the level of HER2 protein overexpression by IHC and the HER2 gene amplification determined by ISH, both on FFPE breast tumor tissues. The first ASCO/CAP guideline was published in 2007 , and updated in 2013 and 2018 . In the last update, the experts refined some controversial criteria of the older guidelines and tried to systematize the testing algorithm for the unusual categories of HER2 ISH results . The results of these tests are graded semi-quantitatively as either 0 , 1+ , 2+ or 3+ by IHC, and classify as amplification , equivocal or negative by ISH. In all of these guidelines, when the HER2 status is negative by IHC and/or ISH, is not indicated the confirmation by an alternate assay. In contrast, the HER2 equivocal cases, by either HER2 IHC or HER2 ISH assays, must be analyzed with an secondary HER2 testing method, or on different tissue blocks with the same testing approach . The answer about which of the two methods is better for evaluating the HER2 status, continues to be unknown. Also, with the two latest updates, an important problem was added respecting the 2007 ASCO/CAP guidelines: more HER2 equivocal cases are diagnosed which an increase in reflex HER2 testing .

Table 3. 2018 ASCO/CAP summary recommendations .

Questions To Ask The Health Care Team


If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:

  • What is my risk of developing breast cancer and ovarian cancer?

  • What is my risk for other types of cancer?

  • What can I do to reduce my risk of cancer?

  • What are my options for cancer screening?

If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:

  • Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?

  • Should I meet with a genetic counselor?

  • Should I consider genetic testing?

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How Does Her2 Positive Breast Cancer Develop

While we are still learning about the causes of HER2 positive breast cancer, researchers have identified how HER2 positive breast cancer develops. In about 25 percent of breast cancers, the cancer cells have an excess of the HER2 protein. This is caused by a mutation in the HER2 gene. When the HER2 gene mutates, it causes cells in the breast to grow and divide at an uncontrolled rate, leading to tumor growth.

Current Classification Of Breast Cancer

Intertumoral heterogeneity of BC is initially illustrated with a clinical staging of the disease. The TNM staging system by the American Joint Committee on Cancer and Union for International Cancer Control adds information about tumor features such as size, regional lymph-node involvement or the presence of distant metastases . After the clinical diagnosis, the first step is the assessment of histological criteria on the primary tumor obtained by surgery and/or a core biopsy, encompassing morphology-base and immunohistochemical analyses for testing the biomarker profile. This is a classical and non-molecular classification of BC, and sets the standard in the usual clinical practice. Classic pathological criteria, such as histological type, tumor size, grade and axillary lymph node status, are relevant for the initial prognostic evaluation . The expression of hormone receptors by IHC and the overexpression and/or amplification of HER2 by IHC and/or ISH gives additional predictive value, being elementary for guiding algorithms of treatment , as will be discussed in the following two sections.

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