BRCA Testing and Genetic Testing for Breast Cancer

Short answer: Genetic testing for breast cancer looks for inherited variants in genes such as BRCA1, BRCA2 and PALB2 that raise a person's risk. It shows risk, not a diagnosis. Whole genome sequencing reads 100% of your DNA, including all of these genes. Results should be reviewed with a genetic counselor or doctor.

Women who inherit certain gene variants are at an increased risk of developing breast cancer. Genetic testing for breast cancer risk can identify whether someone carries the variants most commonly associated with the disease.

Your DNA and Breast Cancer

Variants in two genes, BRCA1 and BRCA2, are found in many women who develop breast cancer. Those who carry changes in these genes are said to have Hereditary Breast and Ovarian Cancer (HBOC) syndrome. By identifying these variants, it is possible to implement preventive measures that can meaningfully reduce the risk of developing breast cancer and related cancers.

Women with a family history of breast cancer are at elevated risk. While most women who develop breast cancer do not carry an inherited gene variant, carrying one is a significant indicator that the person may be at elevated risk for breast cancer or another form of cancer at some point in life.

What to Expect from Genetic Testing for Breast Cancer

Blood, saliva, or a swab of the cheek are the most common ways to retrieve a DNA sample for breast cancer genetic testing. Once retrieved, the sample is sent to the lab for analysis, looking specifically for variants in BRCA1, BRCA2, and other relevant genes.

Different analyses are available. Some test for one or a few variants while others look at a broad panel of genes. The type and number of variants analyzed depend on the individual's situation. For instance, those of Ashkenazi Jewish descent carry specific variants in the BRCA genes associated with higher breast cancer risk, so those variants are typically evaluated first.

Genetic testing for breast cancer is a risk predictor, not a diagnosis. Results communicate whether there is an elevated risk. The information found in a genetic test may include variants in genes such as BRCA1, BRCA2, BARD1, ATM, CHEK2, PALB2, PTEN, TP53, FGFR2, and TOX3. Because test results can be difficult to interpret, speaking with a genetic counselor is strongly recommended to understand the implications.

When Should You Get Genetic Testing for Breast Cancer

Guidelines indicate that anyone who has had breast cancer or has a family history of it should seek genetic testing. However, genetic testing for breast cancer risk is appropriate at any age. Dr. Colby notes: "Children and even babies should be tested for breast cancer predisposition as the preventive measures are most effective when started early and continued throughout life."

Guidelines for Genetic Testing for Breast Cancer

Many expert groups have developed guidelines for breast cancer genetic testing. These guidelines identify people who should seek genetic counseling and testing for BRCA gene variants. Considerations include:

A personal history of breast cancer, particularly triple-negative breast cancer
Multiple breast cancer diagnoses that are not recurrences of the same tumor
Ashkenazi Jewish or Eastern European descent
Family history of breast, ovarian, pancreatic, or prostate cancer
Known family history of a BRCA variant
Family history of breast cancer at a young age or in multiple family members, including male relatives
Close relatives with a history of ovarian cancer, pancreatic cancer, or metastatic prostate cancer

BRCA1 and BRCA2 Gene Variants

BRCA1 and BRCA2 gene variants are among the most studied in oncology. People who carry these variants are at significantly elevated risk for breast cancer and ovarian cancer. Because these variants are inherited, people with a family history of breast cancer should seek genetic testing to determine whether they carry one.

PALB2 Gene Variants

As Dr. Colby explains: "While genetic variants within the BRCA1/2 genes are most infamously associated with breast cancer, there are actually many different genetic variants in a large number of other genes that are also associated with an increased risk of breast cancer, and accurate analysis of risk should take them all into consideration."

The PALB2 gene works in partnership with BRCA2 to repair damaged DNA and suppress tumor growth. Research published in the New England Journal of Medicine in 2014 suggested that a PALB2 variant may be as indicative of breast cancer risk as BRCA1 and BRCA2. That study found the PALB2 variant increased breast cancer risk 5 to 9 times above average, with 229 of 311 women carrying an abnormal PALB2 gene eventually diagnosed with breast cancer.

PALB2 was added to most hereditary breast cancer panels around and after 2013, so if you were tested for breast cancer before then, ask your doctor or genetic counselor whether testing again for PALB2 makes sense.

What Are Gene Variants

Gene variants, which older articles call mutations, are changes in DNA. People experience changes in their DNA in two ways.

Acquired Variants: Cells become damaged during replication by a virus or exposure to carcinogens.
Hereditary or Germline Variants: These are passed down from generation to generation.

Acquired variants are the most common cause of cancer. Doctors estimate that 5% to 10% of breast cancers are caused by inherited gene variants, which can be assessed through genetic testing.

Special Information for Men: Male Breast Cancer

Despite increased awareness, many men do not take the necessary precautions to detect breast cancer early. Dr. Colby notes: "Males are an important part of our fight against breast cancer. Males can also have a substantially increased risk of breast cancer and it is also important for a man to know if he has an increased risk because then he will know of the importance of having his children tested when they are young so preventive measures can be implemented as well as informing his relatives so they can have genetic testing."

Men can also inherit BRCA variants. For men, these variants can mean an increased risk of breast cancer, high grade prostate cancer, and pancreatic cancer.

Signs of male breast cancer include a hard lump in the breast that does not move, nipples that turn inward, nipple discharge (clear or bloody), sores or rash around the nipples, hardness or swelling of the skin near the nipple, and swollen glands in the armpit. Any concerns should be reported to a healthcare provider promptly.

Implications of Genetic Testing

A positive result for a gene variant does not mean breast cancer is certain. Similarly, a negative result does not mean breast cancer will never develop. Genetic testing identifies risk. That information can be used to reduce risk through options including preventive surgery such as mastectomy, chemoprevention with medications that block estrogen receptors such as tamoxifen, and practical measures such as minimizing radiation exposure through avoidance of unnecessary X-rays and CT scans.

How Much Does Genetic Testing for Breast Cancer Cost

Insurance companies in the United States often cover BRCA testing because it is less expensive than cancer treatment. However, coverage and criteria vary by plan. Some insurers only cover testing under specific circumstances, such as when there are risk factors including family history. Contacting your insurance provider directly is the best way to confirm coverage.

As Dr. Colby notes: "Predictive medicine has the potential to significantly decrease the costs of healthcare." Genetic testing helps identify whether someone should investigate preventive options. It complements screening such as mammograms and does not replace it.

Where to Get Genetic Testing for Breast Cancer

Whole genome sequencing is the most complete option. It reads 100% of your DNA, including over 30,000 genes such as BRCA1, BRCA2, PALB2, ATM, CHEK2, BARD1, PTEN and TP53, so there are no gaps in the genes tied to breast cancer risk. Sequencing's Kit Bundles include a Whole Genome Sequencing kit and Next Gen Disease Screening, which analyzes your genome for more than 15,000 conditions. The kit is mailed to your home and needs only a simple cheek swab.

Shop All Whole Genome Sequencing Kit Bundles

Already Have DNA Data From Another Provider?

Apps in the Sequencing Partner Marketplace can analyze raw DNA data you already have for breast cancer and ovarian cancer risk, examining genes including BRCA1, BRCA2, BARD1, ATM, CHEK2, PALB2, PTEN, TP53, FGFR2, and TOX3. Raw data files from most testing companies work, including 23andMe, MyHeritage, and FamilyTreeDNA. Raw data from DNA microarray (chip) tests can contain false positives. Sequencing's clinical grade 30x whole genome sequencing is not a microarray test.

Upload Your DNA Data Free

Ongoing Research on Breast Cancer

Many research studies and clinical trials are exploring the causes of breast cancer, as well as new and better ways to treat it. While some genetic variants connected to an increased risk of breast cancer have been identified, studies are working to discover more.

Researchers are also exploring:

The best uses of genetic testing to identify inherited gene variants that lead to breast cancer.
How common gene variants that pose little risk of cancer by themselves could combine to have a bigger impact.
The possible impact of environmental factors on the risk of breast cancer.

One of the most promising avenues of treatment research is the use of biomarkers to help personalize treatments for breast cancers. Biomarkers are genes, proteins, or other substances that can be found in biological material like blood and tissues.

When cancer cells die they release circulating tumor DNA (ctDNA). Researchers are working on techniques for identifying and testing ctDNA, and biomarker information from it may help in several ways:

Determining if a certain drug will work on a given tumor before administering it.
Identifying if a cancer has become resistant to a certain treatment, such as chemotherapy.
Predicting if an early stage cancer has a high chance of recurring.

Sources and Patient Organizations

This article is for education and is not a substitute for professional medical advice, diagnosis, or treatment. Talk to a qualified healthcare provider about your own health.

Frequently Asked Questions

Who should have genetic testing for breast cancer?

Guidelines point to people who have had breast cancer, especially triple negative breast cancer or more than one breast cancer, and to people with a family history of breast, ovarian, pancreatic or prostate cancer, a known BRCA variant in the family, or Ashkenazi Jewish or Eastern European descent. A genetic counselor can tell you whether testing fits your situation.

Which genes are tested for breast cancer risk?

BRCA1 and BRCA2 are the best known. Broader panels commonly add PALB2, ATM, CHEK2, BARD1, PTEN and TP53, and some reports also include risk related variants such as FGFR2 and TOX3.

How much does genetic testing for breast cancer cost, and does insurance cover it?

In the United States, insurance often covers BRCA testing for people who meet criteria such as a family history, but coverage varies by plan, so confirm it with your insurer. Sequencing's kit bundles include whole genome sequencing, and the current prices are on the kit bundles page.

Can men have BRCA variants or get breast cancer?

Yes. Men can inherit BRCA variants, which can raise the risk of breast cancer, high grade prostate cancer and pancreatic cancer. A man who knows his result can also tell his relatives so they can consider testing.

What does a positive BRCA result mean?

A positive result means a higher risk of breast cancer, not that cancer is certain, and a negative result does not rule it out. Options to lower risk include closer screening, medicines such as tamoxifen and, for some people, preventive surgery, so talk with a genetic counselor or doctor about the right plan.

Can whole genome sequencing detect BRCA1, BRCA2 and PALB2 variants?

Whole genome sequencing reads 100% of your DNA, including over 30,000 genes such as BRCA1, BRCA2 and PALB2, so it shows the variants you carry in these genes. A doctor or genetic counselor should review any result that could affect your care.