Genetic testing for inherited breast and ovarian cancer syndromes: important concepts for the primary care physician

Abstract

The remarkable advances in the area of genetic testing are transforming the way clinical medicine is practised. In the case of the inherited breast-ovarian cancer syndrome the ability to engage in genetic testing of BRCA genes has raised novel issues over caring for patients who are at increased risk for these malignancies. The primary care physician is likely to play a pivotal role in identifying such persons. As only 10-15% of all breast cancers are caused by directly heritable mutations, cultivating the ability to identify those who may be at increased risk is an important skill for the primary care physician. Once it is established that an individual is at risk of BRCA mutation, the physician must understand the potential benefits and drawbacks of the various genetic BRCA tests. Taking such factors into account leads to the development of an appropriate plan for evaluation. Careful attention must also be paid to social and psychological issues that may affect patients and their families.

Role of apoptotic regulators in human epithelial ovarian cancer

“…Alternatively, mutated p53 allows the unchecked replication of cells which overexpress antiapoptotic genes or harbor damaged proto-oncogenes or tumor suppressor genes. 19 The correlation observed between stage of the tumor and p53 expression, as reported in previous studies, 20 also indicates its involvement in ovarian carcinogenesis.…”

Cats, Cancer and Comparative Oncology

“…Now that the feline genome is available, Siamese cats may be a model for genetic risk of breast cancer and other neoplasia, given their increased risk of several tumor types. Germline mutations in BRCA1 and BRCA2 genes are associated with familial breast cancer risk in women, although the majority of breast cancers are sporadic in nature [ 78 ]. BRCA mutations have not been found in cats with mammary cancer [ 79 ].…”

Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility

“…With respect to the primary care specialties, there has been a great deal of recent discussion surrounding the extent to which primary care physicians should play a role in GTICS [Escher and Sappino, 2000; Greendale and Pyeritz, 2001; Pinsky et al, 2001; Taylor, 2001; Burke and Emery, 2002; Burke et al, 2002; McKelvey and Evans, 2003]. In this study sample, obstetricians/gynecologists were the second highest use group after oncologists (i.e., 51.5% had ordered and/or referred), and 25.9% placed importance on advertising.…”