By Athena Puski, MS LGC
Licensed Genetic Counselor
Holden Comprehensive Cancer Center University of Iowa Hospitals and Clinics

You’ve probably heard of BRCA1 and BRCA2, or “the BRACA genes,” which increase the risk of getting breast and ovarian cancer. But have you heard of PALB2, CHEK2, or ATM? Many are surprised to learn there are 11 additional genes besides BRCA1 and BRCA2 that are known to increase the risk of getting breast cancer, and many more genes are still being researched for their possible association with hereditary breast cancer.

A mutation in any of these “other” genes increases the chance of getting breast cancer. Some increase the risk for breast cancer just a little bit, while others increase the risk a lot. These genes can also increase the chance of getting other cancers besides just breast cancer. For example, CHEK2 mutations slightly increase the risk for breast cancer and colon cancer, while PALB2 mutations slightly increase the risk for pancreatic cancer, ovarian cancer, and breast cancer.

Knowing if you have one of these genetic mutations can impact medical care for you and your family members. There are often steps that can be taken to detect cancer at an early and more-treatable stage, or even prevent cancer. How this is done depends on the specific gene in which there is a mutation. It may include screening for cancer more often, such as doing a mammogram and a breast MRI every year. Sometimes surgery can be used to prevent cancer, such as by removing the ovaries or both breasts. Medications can also sometimes be used to lower the chance of getting cancer. In some cases, targeted cancer treatments, such as PARP inhibitors, can be used as part of the treatment for breast cancer.

These hereditary causes of cancer are not common—only about 10% of all breast cancers are estimated to be due to an inherited genetic mutation (about half of which are due to a mutation in a gene other than BRCA1 or BRCA2). Those with a genetic mutation often (but not always) have a strong family history of cancer. Some things that can indicate you might have a hereditary breast cancer condition and may want to consider genetic testing include the following:
• You or someone in your family had breast cancer before the age of 45
• You or someone in your family has had triplenegative breast cancer, ovarian cancer, pancreatic cancer, male breast cancer, or metastatic prostate cancer
• At least three members of your family have had breast cancer or prostate cancer at any age

If genetic testing is something you are interested in learning more about, talk with your doctor or a genetic counselor. Even if you had BRCA1 and BRCA2 genetic testing in the past, additional testing for mutations in other genes may be appropriate. This type of genetic testing is called “update testing” or “panel testing.”

Genetic testing can usually be done with a blood sample or sometimes a saliva sample. Nowadays, insurance coverage for genetic testing is often very good. However, even if insurance won’t cover the cost of testing for you, there are routes available to get genetic testing for about $250, even without insurance. Genetic testing isn’t right for everyone, though, and that’s okay. It is scary to learn you and family members have an increased chance of getting cancer; not everyone is ready for this information. Others may welcome the information learned from genetic testing so they can take proactive steps against their cancer risk. A genetic counselor and your doctor can help you determine what is best for you. FORCE (https://www.facingourrisk.org/) is also great resource to learn more about genetic testing and genetic mutations.

Whether or not you decide if genetic testing is right for you, knowing your family history is key. The upcoming holidays are a great time to talk with family members and gather their medical history. Here is a guide to help you through the process about asking family members about their health history: guide-tofamily-health-history.pdf (geisinger.org).

By Douglas M. Duven, M.D., F.A.C.S of the Breast Care Center

Fact: Men can carry and pass on the BRCA gene mutation.
Breast cancer occurs in men & women. Approximately one male is diagnosed for every 100 women. Male breast cancer often presents with a lump or mass. Mammograms are possible for men if indicated. Ultrasound assists in evaluating the male breast tissue. Biopsies are the same as for women – usually an ultrasound guided core biopsy. If a cancer is found, a mastectomy is usually recommended. Male breast cancer is also tested for estrogen and progesterone receptors, Tamoxifen is often prescribed for the ER+/PR + tumors. Men with a lump that is not centrally located (beneath the nipple) should be evaluated for a possible cancer

Fact: Men can carry and pass on the BRCA gene mutation.
The maternal side of the family used to be the focus, now both maternal and paternal sides need to be evaluated for breast, ovarian and pancreatic cancer. Many men develop a breast lump or enlargement that is not cancer.

Gynecomastia is the growth of male breast tissue, commonly located beneath the nipple. Male breast tissue can be affected by hormonal fluctuations and medical conditions. Gynecomastia can be a side effect of many medications, including testosterone supplements. Dietary supplements such as those used by body builders are also a possible source. Some medical conditions such as kidney disease/failure, prostate cancer also raise the incidence of gynecomastia.

Paget’s Disease of the breast is a malignancy, often presenting with a persistent rash, irritation or lesion of the areola or nipple. A punch biopsy of the lesion often is the most frequent biopsy type used to rule out Paget’s Disease. Paget’s can be non-invasive or invasive. Women should be encouraged to report any persistent rash or lesion of their breast to their primary care physician. Frequently, a steroid containing cream is prescribed initially. If there is no improvement using the cream, referral for biopsy is recommended. Paget's is treated with surgery. These tumors are tested for the estrogen and progesterone receptors, with anti-estrogen therapy often recommended. Chemotherapy may be indicated for an invasive Paget's tumor.

Malignant Phyllodes tumors account for less than 1% of breast cancers and typically present as a rapidly enlarging, palpable mass in middle-aged to older women, and may develop over several months. The mammographic appearance is often telling— a very large, relatively circumscribed, round or oval mass. The mass may become extremely large. At close inspection, the margins are often ill defined rather than sharply circumscribed. When detected at a screening examination, the appearance may mimic a fibroadenoma. The ultrasound appearance is similar to that of fibroadenoma, though a phyllodes tumor more frequently contains cystic spaces than does a benign fibroadenoma. On ultrasound, the margins of a phyllodes tumor are typically ill defined. Surgical treatment is similar to other breast cancers, lumpectomy when appropriate or mastectomy.

Inflammatory Breast Cancer is a rare, but aggressive form of breast cancer. Frequently, it presents with redness, swelling, tenderness and a warm sensation of the breast. Often this is initially mistaken for an infectious process. The swelling of the breast tissue and skin is due to the blockage of the lymph channels. The breast skin may have the appearance of orange peel. Often there is no specific mass palpated within the breast. Other symptoms are a rapid increase in breast size, heaviness and marked asymmetry. Ultrasound often shows significant skin edema.  Diagnosis is made by biopsy of the abnormal skin or by core biopsy of a lesion within the breast. Many inflammatory breast cancers are advanced before diagnosed, often with lymph node involvement, sometimes with distant metastasis. Inflammatory breast cancer is most frequently treated with aggressive chemotherapy prior to any definitive surgery. Hormonal therapy is used if the tumor is estrogen/progesterone receptor positive.

Mastitis is an infection of the breast. Frequently, women who are nursing have mastitis, but the condition is not limited to those women. Mastitis can occur at nearly any age. These infections can arise from a breast duct, the nipple can be the entrance site for common skin bacteria, the fluid in the ducts serves as a host for the bacteria. Redness, swelling, fever, and pain are the presenting symptoms. Sometimes, the infection can break through the skin or drain through the nipple. An ultrasound can help to detect an infected pocket of fluid, often this pocket can be drained. The fluid removed may be evaluated by the lab for the type of bacteria and which antibiotics will work best. Oral antibiotics are usually used and often need to be taken for an extended course to fully treat the infection. Surgical removal of the chronically infected area may be required if the mastitis recurs. Women who smoke have a higher incidence of mastitis.

Women and men should report any change(s) of their breast(s) to their physician.


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