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. Keywords: breast cancer; ovarian cancer; genetics; inherited cancers
Full Text
The Full Text of this article is available as a PDF (131.1 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Boyd J., Rubin S. C. Hereditary ovarian cancer: molecular genetics and clinical implications. Gynecol Oncol. 1997 Feb;64(2):196–206. doi: 10.1006/gyno.1996.4572. [DOI] [PubMed] [Google Scholar]
- Burke W., Daly M., Garber J., Botkin J., Kahn M. J., Lynch P., McTiernan A., Offit K., Perlman J., Petersen G. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 1997 Mar 26;277(12):997–1003. [PubMed] [Google Scholar]
- Greene M. H. Genetics of breast cancer. Mayo Clin Proc. 1997 Jan;72(1):54–65. doi: 10.4065/72.1.54. [DOI] [PubMed] [Google Scholar]
- Hartmann L. C., Schaid D. J., Woods J. E., Crotty T. P., Myers J. L., Arnold P. G., Petty P. M., Sellers T. A., Johnson J. L., McDonnell S. K. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999 Jan 14;340(2):77–84. doi: 10.1056/NEJM199901143400201. [DOI] [PubMed] [Google Scholar]
- Hunter A., Wright P., Cappelli M., Kasaboski A., Surh L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin Genet. 1998 Jun;53(6):447–455. doi: 10.1111/j.1399-0004.1998.tb02593.x. [DOI] [PubMed] [Google Scholar]
- King M. C., Rowell S., Love S. M. Inherited breast and ovarian cancer. What are the risks? What are the choices? JAMA. 1993 Apr 21;269(15):1975–1980. [PubMed] [Google Scholar]
- Kodish E., Wiesner G. L., Mehlman M., Murray T. Genetic testing for cancer risk: how to reconcile the conflicts. JAMA. 1998 Jan 21;279(3):179–181. doi: 10.1001/jama.279.3.179. [DOI] [PubMed] [Google Scholar]
- Koenig B. A., Greely H. T., McConnell L. M., Silverberg H. L., Raffin T. A. Genetic testing for BRCA1 and BRCA2: recommendations of the Stanford Program in Genomics, Ethics, and Society. Breast Cancer Working Group. J Womens Health. 1998 Jun;7(5):531–545. doi: 10.1089/jwh.1998.7.531. [DOI] [PubMed] [Google Scholar]
- Langston A. A., Malone K. E., Thompson J. D., Daling J. R., Ostrander E. A. BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med. 1996 Jan 18;334(3):137–142. doi: 10.1056/NEJM199601183340301. [DOI] [PubMed] [Google Scholar]
- Lynch H. T., Lemon S. J., Durham C., Tinley S. T., Connolly C., Lynch J. F., Surdam J., Orinion E., Slominski-Caster S., Watson P. A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer. 1997 Jun 1;79(11):2219–2228. doi: 10.1002/(sici)1097-0142(19970601)79:11<2219::aid-cncr21>3.0.co;2-y. [DOI] [PubMed] [Google Scholar]
- Malone K. E., Daling J. R., Thompson J. D., O'Brien C. A., Francisco L. V., Ostrander E. A. BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA. 1998 Mar 25;279(12):922–929. doi: 10.1001/jama.279.12.922. [DOI] [PubMed] [Google Scholar]
- Marteau T. M., Croyle R. T. The new genetics. Psychological responses to genetic testing. BMJ. 1998 Feb 28;316(7132):693–696. doi: 10.1136/bmj.316.7132.693. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Phillips K. A., Glendon G., Knight J. A. Putting the risk of breast cancer in perspective. N Engl J Med. 1999 Jan 14;340(2):141–144. doi: 10.1056/NEJM199901143400211. [DOI] [PubMed] [Google Scholar]
- Stratton J. F., Gayther S. A., Russell P., Dearden J., Gore M., Blake P., Easton D., Ponder B. A. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 1997 Apr 17;336(16):1125–1130. doi: 10.1056/NEJM199704173361602. [DOI] [PubMed] [Google Scholar]