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! ! !Caruthers 1!Clara Caruthers Doug Brutlag Genomics and Medicine 1 December 2008 Genetic Testing and Counseling for Women At-Risk for Familial Breast Cancer The pink ribbon of breast cancer awareness graces everything from tennis shoes to cupcakes. The symbol’s frequent appearance attests to the attention that many individuals are paying to the prevalence of breast cancer. Second only to skin cancer, it is the most common cancer to affect United States women and, second to lung cancer, it is the leading cause of cancer death in women as well.1 The American Cancer Society estimates that 182,460 American women will be diagnosed with breast cancer in 2008 alone, and the disease will take the lives of over 40,000 women in the United States this year. Currently, a woman’s chance of having breast cancer at some point in her life is approximately 1 in 8; her chance of dying from breast cancer is about 1 in 35. The pink ribbon’s presence speaks to the increasing awareness of the risk that women especially, but men as well, face in the form of breast cancer. However, the ribbon does not always indicate individuals’ awareness of the genetic testing and counseling that is available for familial forms of this cancer. Approximately five to ten percent of breast cancers are linked to inherited genetic mutations. Most commonly these mutations involve genes known as the BRCA1 and BRCA2 genes. Women who have inherited these mutations have an 80% chance of getting breast cancer at some point in their lives. Having an immediate family member with breast cancer almost !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!1 “Cancer Reference Information,” American Cancer Society, <http://www.cancer.org>.! ! !Caruthers 2!doubles a woman’s risk for breast cancer. Though between 70 and 80 percent of women diagnosed with breast cancer do not have a family history of the disease, the implications of genetic knowledge regarding familial breast cancer are highly significant for the thousands of women who do have a mother, sister, or daughter affected by the disease. Since breast cancer is 100 times more common in women than in men, most studies to date have focused on women in particular who are at-risk for familial breast cancer.2 Though specified in terms of women, however, these studies’ findings have importance for men affected by breast cancer as well. Since 1996, genetic testing for the presence of mutations in highly penetrable genes such as BRCA1 and BRCA2 (BRCA1/2), as well as TP53 and PTEN, has been clinically available for individuals through analysis of a blood sample.3 The genetic mutation signified by the BRCA1/2 gene indicates increased risk not only for breast cancer but also for ovarian cancer in women. In men, these mutations put their carriers at increased risk for prostate cancer, pancreatic cancer, and melanoma as well. When a woman has a family history of breast or ovarian cancer, her decision whether or not to undergo genetic testing for the presence of inherited risk factors can impact multiple aspects of her life. If a woman chooses to have genetic analysis and receives results that indicate the presence of BRCA1/2, preventive treatment may become a recommended option. Some women may choose to engage in chemoprevention, while others may undergo a bilateral prophylactic mastectomy. Women who specifically carry the BCRA1 mutation may choose to undergo a bilateral prophylactic oopherectomy, which can significantly decrease a woman’s risk for ovarian cancer and also lowers the risk for breast cancer. !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!2 “Cancer Reference Information,” American Cancer Society, <http://www.cancer.org>. 3 Edlich RF, Winters KL, Lin KY, “Breast Cancer and Ovarian Cancer Genetics,” J Long Term Eff Med Implants, 2005; 15(5):533-45, PubMed, <http://www.pubmed.gov>.!!!! ! !Caruthers 3!For most women, however, the decision to receive prophylactic treatment is by no means an easy one. While treatment may reduce the risk for breast cancer itself, such treatment for some women may entail other types of hardship. Anxiety regarding the psychological distress that could result from the removal of the breasts, for instance, can influence some women’s decision for or against surgery.4 Indeed, some women who undergo genetic testing subsequently choose not to engage in chemoprevention or surgery and instead opt for frequent self-examination and/or clinical surveillance. In a one-year follow-up of women who had presymptomatic testing for BRCA1/2 and then chose either surveillance or surgery, the women who underwent prophylactic mastectomies reported more distress than the other women in the study. 5 After about 6 months, however, their distress levels had dropped significantly; the women were satisfied with their decision to receive treatment, though the knowledge of reduced risk for cancer also entailed a negative impact on “body image, the intimate relationship, and physical well-being.” Genetic counselors can help women navigate through this maze of potential outcomes. Regardless of the consequences though, making an informed choice between enhanced surveillance and preventive treatment ultimately relies on a woman’s initial decision to seek genetic testing. However, many individuals are not aware that such testing is even an option. One study published in late 2008 found that few women with ovarian cancer undergo genetic testing for the breast and ovarian cancer susceptibility genes, BRCA1/2.6 55% of the 237 !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!4 Edlich RF, Winters KL, Lin KY, “Breast Cancer and Ovarian Cancer Genetics,” J Long Term Eff Med Implants, 2005; 15(5):533-45, PubMed, <http://www.pubmed.gov>. 5 Lodder LN, Frets PG, et. al., “One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2,” Breast Cancer Res Treat., 2002 May; 73(2):97-112, PubMed, <http://www.pubmed.gov>. 6 Lacour RA, Daniels MS, et. al., “What women with ovarian cancer think and know about genetic testing,” Gynecol Oncol., 2008 Oct; 111(1):132-6, PubMed, <http://www.pubmed.gov>.!!!! ! !Caruthers 4!ovarian cancer patients in the investigation had not even heard of BRCA testing. Even though genetic testing has been available for twelve years, 51% of Caucasian respondents were unaware of BRCA testing; 70% of Hispanic and 88% of African American participants were unaware. Overall,


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