Every woman is at risk for breast cancer, and the risk increases as a woman ages. Some women, however, are at an increased risk of breast cancer because of a strong family history, or a previous high-risk biopsy. Although women are generally aware of the increased risk of breast cancer associated with a positive family history, most are surprised when they learn that 75% of women who get breast cancer have no family history. This observation dispels the commonly held myth: “I don’t have to worry about breast cancer since it does not run in my family.” The bottom line is that all women are at risk for breast cancer, even those women with no family history of breast cancer.
Women with a prevalent family history of breast or ovarian cancer are at a relatively higher risk of developing breast cancer as compared to women with no family history. There are multiple factors that influence this increase in risk, such as having one or more first degree relatives (mother, sister, or daughter) with breast cancer. The risk is further increased if the first degree relatives developed a pre-menopausal or a bilateral (both breasts) breast cancer. Other high risk factors include a family history of ovarian cancer, a male relative diagnosed with breast cancer, multiple generations of women diagnosed with breast cancer, or Ashkenazi Jewish and/or Eastern European heritage.
We advise our patients with these high risk factors to see our genetic counselor. The program provides a detailed analysis of personal risk, a personalized plan of action, and spells out the pros and cons of genetic testing (link to BRCA1 and BRCA2 Gene testing). Women who test positive for the BRCA1/2 gene mutations, and some women who test negative but have a very strong family history of breast cancer, are followed in our high risk clinic.
Recent studies demonstrate that BRCA1 and BRCA 2 carriers are at an increased risk for developing interval cancers (cancers that are identified in the interval between the yearly mammogram). Thus, we see them every three to six months and do a yearly mammogram, as was well as a yearly MRI. These women are also given the option of taking tamoxifen for risk reduction, as well as the option for prophylactic mastectomy and reconstruction.
It is also important to remember that women with the BRCA1 or BRCA2 mutations are also at an increased risk of ovarian cancer. Appropriate attention to these issues is an essential component of managing these patients.
High Risk Biopsy
Most breast biopsies fall into the obvious categories of benign or malignant. There is, however, a sub-group of breast biopsies that contain cells that, when viewed under the microscope, appear abnormal but are not frankly malignant. If these cells meet certain criteria set forth by the pathologist, they are labeled as “atypical”. The diagnosis of atypia (the state of breast cells being atypical) is associated with a significantly increased risk for the future development of breast cancer.
There are two common forms of atypia: atypical ductal hyperplasia and atypical lobular hyperplasia. Both are associated with a similar increase in breast cancer risk, and some biopsies contain both types of atypia. This risk is amplified if there is a strong family history of breast cancer. There is also a long list of other pathologic conditions found in breast biopsies that are associated with an increased risk, such as radial scars, multiple papillomatosis, and lobular carcinoma in-situ (LCIS).
It is important that a woman has a clear understanding of the exact nature of her breast biopsy. If there is any question of a high risk condition, it is essential that a patient be given a clear explanation of the risks as well as an appropriate plan of action.