Knowing your hereditary cancer risks may save your life.

As a breast cancer surgeon, it is obvious to see where my commitment and compassion lie. Serving and saving the lives of women (and men) affected by breast cancer is why I pursued a breast surgery fellowship and specialized solely in Breast Surgical Oncology. Besides treating patients diagnosed with breast cancer, I also managed and treated women at high risk for developing breast and other hereditary cancers, including those found to carry mutations in the BRCA1/BRCA2 genes.

I joined Ambry Genetics as the Medical Director of Oncology recently, after years of being involved in cancer genetics from the perspective of a practicing breast surgeon. It was a dream come true to be an integral part of the development of as a resource for patients and their families. I hope to offer my medical perspective to you through this blog, and thought it would be best to start at the beginning of the journey I have taken with many of my patients -- when a breast cancer diagnosis is made.

Diagnosis is a medical process of determining what disease, syndrome or cancer a person has. In order to diagnose breast cancer, a person usually presents with signs or symptoms that are new, unusual or a change from normal. To learn more about how a new diagnosis of breast cancer is made, click here. After finding the abnormality, a tissue sample is taken via a procedure called a biopsy. A biopsy is usually performed with a needle or during surgery. The pathologist (the doctor who studies tissues) needs this to confirm malignant (cancerous) breast cells versus benign (non-cancerous) breast cells, like those seen within a very common benign mass called a fibroadenoma.

Within the fatty and glandular tissue of the breast, there are milk ducts and lobules. Cancer of the cells arising in the milk ducts are referred to as ductal carcinoma. If these cancer cells break through the wall of the milk duct to move or invade surrounding structures it is called "invasive ductal carcinoma." To learn more about the types of breast cancer, click here.

Most cancers develop over time. The cells can make copies and duplicate for several years before a sign or symptom is detected. This is why you can be fine one week, and diagnosed with breast cancer if you see your doctor a week later (Eve Mart discusses this in her earlier post). After the diagnosis is made, a work up with various tests is necessary. The amount of cancer currently in the body is confirmed by staging, and this is important in figuring out what type of treatment is necessary.

During this process we also learn about the behavior of the cancer. When the milk duct cell turns into cancer, it can remain sensitive to the female hormones (estrogen and progesterone receptor positive) or not (estrogen and progesterone receptor negative) and either over-expresses the Her2/Neu growth factor (Her2/Neu positive) or does not (Her2/Neu negative). If the ER/PR and Her2/Neu are all negative, the cancer is called triple negative breast cancer (TNBC), the type Eve mentions in her post. Treatment options and control of the cancer can be very challenging in these types of cancers.

About 5-10% of breast cancer is hereditary and due to gene mutations -- this is the minority. However, gene mutations can be identified more often in women with TNBC. Once we have identified a hereditary cancer syndrome in a family we can start screening others in the family for these cancers earlier and more often. Click here to learn more about reducing/preventing cancers in you and your family.

Knowing your risks for developing hereditary cancers allows you to choose to have various options to take control of your healthcare. Genetic testing also allows you to make a choice that is right for you while you are facing a new diagnosis -- with the help of a genetic counselorbreast specialist, or oncologist.

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The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.