This week we focus on breast cancer and the outcome associated with hereditary factors and controversies surrounding the seemingly uncontroversial annual physical exam
This week’s New England Journal of Medicine reports on clinical outcomes in patients with breast cancer who carry the BRCA1 and BRCA2 mutations. The investigators set out to answer the question of whether breast cancers associated with BRCA1 and BRCA2 mutations are associated with a poorer outcome, specifically survival, when compared with non carriers of the mutation. The study subjects were Israeli women, diagnosed with breast cancer in 1987 and 1988, notably before the time that BRCA1 and 2 were known. Approximately 10% of 1800 specimens found were positive for one of the BRCA1 and 2 mutations, 131 in total. Carriers of one of the BRCA1 or 2 mutations were found to have their cancers diagnosed at a younger age (<50), have smaller tumors that were more often (24 % vs 65%) estrogen receptor negative than women who were non carriers of the mutations. They were also less likely to have negative lymph nodes. With respect to 10-year survival, it was found to be similar in all groups: 51% in non carriers, 49% in BRCA1 carriers and 48% in BRCA2 carriers. Thus, while the study was limited with respect to size, taken with other similar studies, it seems reasonable to conclude that BRCA1 or 2 mutations do not adversely influence survival.
In a related Clinical Practice article in the same issue, entitled “Management of an Inherited Predisposition to Breast Cancer”, Robson presents a case of a 33 year old woman with a strong family history of early onset breast cancer (sister at 35, mother at 37 and aunt at 42) and a grandfather with prostate cancer. The question is: what is the best management?
There are several prediction models available to assess the lifetime risk of breast cancer. The most notable of these models is the Gail model . This patient’s lifetime risk, based on age, family history, reproductive factors, number of breast biopsies and personal history of atypia, is estimated at 30-40%. Robson reminds us that there are also multiple models that can be used to predict the likelihood of having a BRCA1 or 2 mutation, “BRCAPRO” being the one most commonly used. It measures age, family history of breast and ovarian cancer and Ashkenazi ethnic background. This patient’s lifetime risk is 37%. Screening is recommended for patients with a BRCA mutation to begin at age 25-30 and those without a mutation to begin 5-10 years earlier than the age of the youngest person at diagnosis. To screen this high risk population it is suggested to use annual mammogram along with the likely addition of MRI, as a sizable number of breast cancers are missed with mammogram alone. Ultrasound and breast examination add little beyond mammogram and MRI. The article also addresses chemoprevention and risk reduction surgeries.
This month’s American Journal of Medicine reviews the history and necessity of the annual physical exam. The annual exam was first suggested in 1861 as a means of maintaining health and to ward off tuberculosis. During a large part of the 20th century, the AMA advocated strongly for the importance of the annual physical exam. In the 1970’s studies began assessing clinical outcomes related to performing an annual physical examination but could not find a benefit of this practice. In fact, in 1979, a Canadian Task Force on the Period Health Examination concluded that an annual physical was no longer necessary and that preventative health measures should be reviewed and discussed during other periodic visits. The American College of Physicians and USPSTF agreed and the periodic exam was abandoned.
Despite these recommendations an annual physical examination is still occurring during approximately 4.4% of all health care visits. Why is this? Mainly because both patients and physicians still find it necessary. For many, it is the logical time to discuss preventative health care. It is known from studies that, without time dedicated to discussing preventative measures, it happens infrequently. In the United States, it is estimated that only 40-55% of patients receive information about preventative measures with proven benefit. It is also expected that “periodic blood tests” are checked. Though also of no proven benefit, periodic blood tests are expected by both patients and their physicians. There are other possible benefits to the annual physical examination include improved patient-physician relationships and increased patient education. Clearly, more research is required that may help to define the optimal approach a primary care physician should take. Where do you stand?
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