Are There Prenatal Tests For Breast Cancer

Pathologic Features Of Breast Cancer During Pregnancy

Few studies have assessed or compared the pathologic features of the primary breast tumor in the pregnant patient with that of the nonpregnant patient.

Hormone Receptors

In their series of pregnant breast cancer patients, Tobon and Horowitz reported infiltrating ductal carcinoma in 13 of 14 patients, negative or very low estrogen-receptor status in 7 patients, and positive progesterone-receptor status in 5 patients. In another study of 14 pregnant breast cancer patients, 6 women had tumors that were both ER and PR negative, 3 had ER- and PR-positive tumors, and the remaining 5 had tumors that were either ER positive and PR negative or ER negative and PR positive.

A case-control study by Ishida et al found that women diagnosed with breast cancer during pregnancy were significantly less likely to have ER- or PR-positive tumors, compared to nonpregnant controls. Bonnier et al reported that women with pregnancy-associated breast cancer were significantly more likely to have ER- and PR-negative tumors and a diagnosis of inflammatory breast cancer, compared to nonpregnant controls.

In the M. D. Anderson prospective cohort of pregnant breast cancer patients treated with chemotherapy, 65% of tumors were negative for both receptors. However, in a smaller case-control study of 15 pregnant breast cancer patients and their respective nonpregnant controls, no significant difference was seen in ER or PR status when the tumors of these two groups were compared.

Genetic Factors

Imaging Tests To Stage Breast Cancer

If breast cancer is found, you might need other tests to find out if cancer cells have spread within the breast or to other parts of the body. This process is called staging. Different staging tests may be needed, depending on your situation.

As noted above, ultrasound scans do not use radiation and are safe during pregnancy.

Chest x-rays are sometimes needed to help make treatment decisions. They use a small amount of radiation to create the images. Theyre generally thought to be safe to have when youre pregnant, as long as your belly is shielded.

Other tests, such as PET scans, bone scans, and computed tomography scans are more likely to expose the fetus to radiation. These tests are not often needed to stage breast cancer, especially if the cancer is thought to be just in the breast. If one of these tests is needed, doctors might be able to make adjustments to limit the amount of radiation exposure to the fetus.

Labor And Delivery Results

The majority of relevant case reviews and case series reported in the literature have concentrated on the frequency of spontaneous abortion and congenital malformations in infants exposed to chemotherapy in utero. Few studies have actually examined the potential complications that may arise during labor and delivery when the mother is receiving chemotherapy. In a review of 14 cases of pregnancy during breast cancer compiled by Ebert et al, 3 of 8 live-born children without congenital anomalies were premature, and 1 of the full-term deliveries was born with intrauterine growth retardation.

Of the 17 live births among 20 women in a French retrospective cohort of pregnant breast cancer patients, 1 newborn died 8 days after birth without any apparent etiology, 2 had transient respiratory distress likely related to prematurity, and 1 had intrauterine growth retardation. One woman was anemic at the time of delivery , and one child had transient leukopenia with normal hemoglobin and platelet counts. The mean gestational age at delivery in the French series was 34.7 weeks.

In a case-control study by Zemlickis et al, women with breast cancer during pregnancy were significantly more likely to have a premature infant, and their infants had a statistically lower mean birthweight, compared to controls. These differences persisted even when an adjustment was made for gestational age.

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Where Can I Go To Get Screened

You can get screened for breast cancer at a clinic, hospital, or doctors office. If you want to be screened for breast cancer, call your doctors office. They can help you schedule an appointment.

Most health insurance plans are required to cover screening mammograms every one to two years for women beginning at age 40 with no out-of-pocket cost .

Are you worried about the cost? CDC offers free or low-cost mammograms. Find out if you qualify.

Calculation Of Normalized Pearsons Correlation Coefficient

Several studies demonstrate that gene expression levels have a negative correlation with the accumulative read depths across the TSS region . In our study, we took the gene expression values of breast invasive carcinoma , diffuse large B-cell lymphoma , and liver hepatocellular carcinoma from The Cancer Genome Atlas database as a reference. We calculated the mean fragments per kilobase of gene per million mapped reads values of each gene in 429 LIHC samples, 885 BRCA samples, and 48 DLBC samples, and the genes with log2 < 0.1 were removed from the study. For each maternal cancer sample, RDPKM values in the TSS region, and Pearsons correlations between RDPKM and the mean FPKM values of LIHC, BRCA, and DLBC were calculated separately with the mean of 14,589 genes. The coefficient of the Pearsons correlation was divided by the sum of the three coefficients of BRAC, DLBC, and LIHC for each maternal cancer sample.

where Ri is the coefficient of Pearsons correlation between the RDPKM and the mean FPKM value of cancer type i.

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Whats The Prognosis For Pr

Hormone receptor-positive types of breast cancer grow more slowly than those that are hormone-receptor negative. They also give you an advantage in treatment, since progesterone blockers can halt the growth of your cancer cells. Still, the sooner youâre diagnosed, the better your prognosis will be.

Hormone therapy can lower your estrogen levels or block the receptors to keep HR-positive cancer from growing and spreading. But sometimes these cancers come back, even many years after treatment. Because of this, you may get hormone therapy for up to 10 years.

Talk with your doctor about your hormone receptor status and what it means for you.

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Tumor Tissue Origin Classification

According to the statistics on cancer types in our study, the most frequent maternal cancer types are breast cancer, liver cancer, lymphoma, and gastric cancer. Therefore, we established a random forest model to classify the common cancer types using the NPCC values, z scores of 22 chromosomes, and seven PTMs as predictor variables . The sensitivity of the classifier was 93.33, 66.67, and 50%, while specificity was 66.67, 90, and 97.06% for the prediction of breast cancer, liver cancer, and lymphoma, respectively. The classifier predicted breast cancer, liver cancer, and lymphoma with positive predictive values of 60.87, 72.73, and 80%, respectively . The leave-one-out cross-validation result showed that the AUC values were 0.9, 0.9, and 0.92 for breast cancer, liver cancer, and lymphoma, respectively , while the classifier performed poorly in predicting gastric cancer . Moreover, we analyzed the feature importance in the random forest classifier and found that AFP, z scores of chr1, CA-125, z scores of chr4, and the NPCC value of LIHC were the top five most important features in the classifier . These results indicate that the random forest classifier could effectively predict the tumor origin of maternal breast cancer, liver cancer, and lymphoma.

TABLE 2. The performance of the tumor tissue origin classifier for breast cancer, gastric cancer, liver cancer, and lymphoma.

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Genetic Counseling And Testing For Breast Cancer Risk

Some people inherit changes in certain genes that increase their risk of breast cancer . Genetic testing can look for mutations in some of these genes. While it can be helpful in some cases, not everyone needs to be tested, and each person should carefully consider the pros and cons of testing. Its very important to understand what genetic testing can and cant tell you before these tests are done.

How Is Breast Cancer Found In Pregnant Women

Most breast cancers in pregnant women are found when a woman notices a lump or change in her breast, or during a clinical breast exam. Pregnant women may get a clinical breast exam as part of their prenatal care.

Screening mammography isnt used in pregnant women because the radiation may harm the fetus. And women under 40 usually dont get screening mammography unless they have an increased risk of breast cancer.

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American Cancer Society Screening Recommendations For Women At Average Breast Cancer Risk

The COVID-19 pandemic has resulted in many elective procedures being put on hold, and this has led to a substantial decline in cancer screening. Health care facilities are providing cancer screening during the pandemic with many safety precautions in place. Learn how you can talk to your doctor and what steps you can take to plan, schedule, and get your regular cancer screenings in Cancer Screening During the COVID-19 Pandemic.

These guidelines are for women at average risk for breast cancer. For screening purposes, a woman is considered to be at average risk if she doesnt have a personal history of breast cancer, a strong family history of breast cancer, or a genetic mutation known to increase risk of breast cancer , and has not had chest radiation therapy before the age of 30.

Women between 40 and 44 have the option to start screening with a mammogram every year.

Women 45 to 54 should get mammograms every year.

Women 55 and older can switch to a mammogram every other year, or they can choose to continue yearly mammograms. Screening should continue as long as a woman is in good health and is expected to live at least 10 more years.

All women should understand what to expect when getting a mammogram for breast cancer screening what the test can and cannot do.

Clinical breast exams are not recommended for breast cancer screening among average-risk women at any age.

Breast Cancer Risk Factors

Family history of breast cancer, ovarian cancer, or other hereditary breast and ovarian syndrome- associated cancer

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Consent For Genetic Testing

Before getting a genetic test, you must first sign an informed consent document. This document confirms that you agree to be tested and you fully understand the tests benefits and risks.

Many testing centers require you to participate in a genetic counseling session before and after testing. Even if genetic counseling sessions are not required, its a good idea to ask for them. A genetic counselor can discuss the tests benefits and risks with you and give you additional information to review.

The main benefit of testing is knowledge. If your genetic test is negative for an abnormal BRCA1, BRCA2, or PALB2 gene that you know is present in your family, then you know you are not at high risk because of a mutation in any of those genes. But you could still be at high risk because of an abnormality in an inherited gene that has not yet been linked to breast cancer or ovarian cancer. This is especially possible if a close family member has been diagnosed with breast or ovarian cancer that is not linked with mutations in these three known genes. If your genetic test is positive, you can take steps to prevent breast or ovarian cancer or try to catch these cancers early if they do develop.

Genetic Counseling: What To Expect

You may be seen by a physician with training in genetics, a genetic counselor or both. A genetic counselor is a specially trained medical professional who provides information and advice about genetics and disease. For some health insurers, genetic counseling is a requirement prior to genetic testing. Before meeting with our genetic counselors or physicians, you will need to gather your medical records, a list of any cancers diagnosed on both your mothers and fathers side, and reports from any cancer-related genetic testing other family members have undergone. You should also write down a list of questions or concerns and verify with your insurance carrier that your visit will be covered.

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How Do I Interpret The Genetic Test Results

A negative genetic test means that a breast cancer gene mutation was not identified. If other genetic testing has identified a mutation in your family, a negative test means you do not have the specific mutation. Therefore, your risk of cancer is the same as someone in the general population who has a family history of breast cancer.

If a BRCA1 or BRCA2 mutation has not been previously found in your family, a negative result should be interpreted cautiously. There is still a chance that you may be at higher risk for breast cancer because of changes in genes other than those that doctors can test for.

A positive test result means that a mutation known to raise the risk of breast and ovarian cancer was identified.

What Will The Her2/neu Results Tell Me

There are four tests for HER2, and results of these may appear on your pathology report, which may take several weeks to come back.

The first one is the IHC test, which is short for ImmunoHistoChemistry. It looks at whether there is excess HER2 protein in the cancerous cells. A result of 0 or 1+ indicates there is no excess, 2+ is borderline, and 3+ means the cells test positive for HER2 protein overexpression.

The remaining three tests all examine if the cells contain too many copies of the HER2 gene. These tests include:

• The FISH test
• The SPoT-Light HER2 CISH test
• The Inform HER2 Dual ISH test

There are only two possible results for these three tests: positive, meaning HER2 gene amplification, or negative, indicating the number of HER2 genes is not excessive.

In the pathology report, breast cancers with HER2 protein overexpression and HER2 gene amplification are called HER2-positive. This type of cancer often grows faster, spreads to other areas more readily, and has a higher likelihood of recurring versus HER2-negative breast cancer.

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The Plasma Tumor Marker Test Shows Poor Performance In The Identification Of Maternal Cancers

We performed the PTM test on 56 maternal cancer cases and 451 non-cancer participants and investigated whether PTMs might be used for identifying maternal cancer patients. First, we compared the PTM expression levels between cancer and normal participants and found that the PTM expression levels were significantly increased in maternal cancer as compared to non-cancer participants except for CA72-4 . Then, we aimed to analyze whether PTMs alone could effectively predict maternal cancer. Participants were considered at high risk for maternal cancer when the concentration of at least one PTM exceeded the prespecified cutoff value. The PTM test showed a sensitivity of 66.07% and specificity of 93.13% in identifying maternal cancers, suggesting the PTM test itself is not a good screening method .

Testing For Brca And Other Gene Mutations

Some expert groups have developed guidelines for which women should consider genetic counseling and possibly testing for BRCA and other gene mutations. These guidelines can be complex, and not all doctors agree with them, but in general they include two main groups of people:

Women who have already been diagnosed with breast cancer: Most doctors agree that not all women with breast cancer need genetic counseling and testing. But counseling and testing is more likely to be helpful if:

• You were diagnosed with breast cancer at a younger age
• You have triple-negative breast cancer
• You have been diagnosed with a second breast cancer
• You are of Ashkenazi Jewish descent
• You have a family history of breast cancer , ovarian cancer, pancreatic cancer, or prostate cancer

Other groups of people: Genetic counseling and testing might also be recommended for other people who are at higher risk for inherited gene mutations, including:

• People with a known family history of a BRCA gene mutation
• Women diagnosed with ovarian cancer or pancreatic cancer, or men diagnosed with breast cancer, pancreatic cancer, or high-grade or metastatic prostate cancer
• People with a family history of breast cancer at a younger age, more than one family member with breast cancer, or breast cancer in a male family member
• People with a close family member with a history of ovarian cancer, pancreatic cancer, or metastatic prostate cancer

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What A Positive Result Means

If your predictive genetic test result is positive, it means you have a faulty gene that raises your risk of developing cancer.

It does not mean you are guaranteed to get cancer your genes only partly influence your future health risks. Other factors, such as your medical history, lifestyle and your environment, also play a role.

If you have one of the faulty BRCA genes, there is a 50% chance you will pass this on to any children you have and a 50% chance that each of your siblings also has it.

You may want to discuss your results with other members of your family, who may also be affected. Staff at the genetics clinic will discuss with you how a positive or negative result will affect your life and your relationships with your family.

You can read more about BRCA1 and BRCA2 in the beginner’s guide to BRCA1 and BRCA2 produced by The Royal Marsden NHS Foundation Trust.

Insurance companies cannot ask you to disclose the results of predictive genetic tests for the majority of policies, but this may change in the future.

Considering Genetic Counseling And Testing For Breast Cancer Risk

If you’re concenred about your risk because of a personal or family history of breast cancer, talk with your doctor. As a first step, your doctor might use one of several risk assessment tools that are now available. These mathematical models use your family history and other factors to help give you and your doctor a better idea about your risk of having an inherited BRCA gene mutation. But these assessment tools aren’t perfect, and each one might give different results, so doctors are still trying to figure out how best to use them.

Regardless of whether one of these tools is used, your doctor might suggest you could benefit from speaking with a genetic counselor or other health professional who is trained in genetic counseling. They can review your family history in detail to see how likely it is that you have a family cancer syndrome such as HBOC. The counselor can also describe genetic testing to you and explain what the tests might be able to tell you, which can help you decide if genetic testing is right for you.

Genetic testing is covered by many health insurance plans, but it might not be covered by some of them.

If you do decide to get tested, the genetic counselor can also help explain what the results mean, both for you and possibly other family members. To learn more about genetic testing in general, see Genetics and Cancer.

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