{"id":4144,"date":"2015-10-20T10:36:44","date_gmt":"2015-10-20T15:36:44","guid":{"rendered":"https:\/\/bestofswla.com\/?p=4144"},"modified":"2016-04-06T15:33:29","modified_gmt":"2016-04-06T20:33:29","slug":"cancer-inherited","status":"publish","type":"post","link":"https:\/\/bestofswla.com\/2015\/10\/20\/cancer-inherited\/","title":{"rendered":"CANCER, INHERITED"},"content":{"rendered":"

Carriers Of Gene Mutation Face Higher Risk Of Breast Cancer<\/strong><\/p>\n

By Lydia Crochet<\/strong><\/p>\n

What would you do if you were told you have an 87-percent chance of developing cancer in your lifetime? Would you take extreme preventative measures? Would you panic?<\/p>\n

For some women, this risk is a reality. In 2013, actress Angelina Jolie made headlines by announcing that she had voluntarily undergone a surgery to remove her breasts (with reconstruction), because she discovered she has a genetic mutation that could eventually kill her.<\/p>\n

Based on advances in genomics, it is now possible to check DNA for known variants associated with hereditary breast cancer. Carriers of a BRCA gene mutation, often called the \u201cbreast cancer gene\u201a\u201d face an incredibly high risk of developing breast and ovarian cancer; Jolie\u2019s mother died of ovarian cancer in 2007. Because of her elevated risk of ovarian cancer, Jolie had her ovaries removed earlier this year.<\/p>\n

While inheriting a susceptibility to cancer may be overwhelming, even devastating, for some women, they don\u2019t have to live in fear. Instead, many are choosing to see genetic testing as a tool, as inside information to be used to help them make informative decisions that may reduce their risk of a cancer diagnosis and, ultimately, save their lives.<\/p>\n

BRCA1 (BReast CAncer susceptibility gene 1) and BRCA2 (BReast CAncer susceptibility gene 2) are genes found in every human being and, when healthy, act as tumor suppressors. They produce a protein that prevents cells from multiplying too quickly.<\/p>\n

When abnormalities, or mutations, in these genes are inherited, cells can grow and divide uncontrollably, allowing tumors to form. If a woman inherits an abnormal copy of either gene from a parent, her risk of developing breast and ovarian cancer increases significantly. Both gene mutations increase an individual\u2019s risk of developing other types of cancer, such as colon and pancreatic cancer, and melanoma.<\/p>\n

A Look At The Numbers<\/strong><\/p>\n

According to Cathy Sullivan, certified genetic counselor with the Smith Breast Center at Baylor College of Medicine, women in the general population have around a 12-percent chance of developing breast cancer sometime during their lives. However, women with a BRCA1 mutation have around a 50- to 80-percent chance of developing breast cancer by age 70; some as high as 87 percent. Women who carry a BRCA2 mutation have about a 40- to 70-percent chance.<\/p>\n

With ovarian cancer, women with a BRCA1 mutation have a 25- to 40-percent chance of developing the disease by age 70, and women with a BRCA2 mutation have an 11- to 18-percent risk. The general population has a risk of only 1.5 percent.<\/p>\n

Breast cancer in men is rare, with the general population at around .05 percent. But men with a BRCA1 mutation have a 1- to 2-percent chance of developing breast cancer in their lives, and men with a BRCA2 gene mutation have a 5- to 10-percent chance. Men with BRCA1 and 2 gene mutations also have an increased risk of developing prostate cancer.<\/p>\n

If either parent is a carrier of a harmful BRCA1 or BRCA2 mutation, there\u2019s a 50\/50 chance of each child inheriting the gene. However, the gene does not skip a generation. For instance, if your maternal grandmother was a carrier, but your mother was not, you will not inherit the gene.\"gene2\"<\/a><\/p>\n

To Test Or Not To Test<\/strong><\/p>\n

So who should be tested? And where do you even begin? Sullivan explains, \u201cIdeally, genetic testing should be initiated with someone who has breast or ovarian cancer, in order to determine whether or not their cancer is caused by an underlying genetic mutation. If a mutation is identified, then unaffected family members can be tested in order to determine whether or not they have inherited the mutation, and are thus at an increased risk to develop the associated cancers themselves. Very rarely do we recommend testing unaffected individuals, if a mutation has not been previously identified in the family.\u201d<\/p>\n

Not everyone who has been diagnosed with breast or ovarian cancer should be tested. Most women who get cancer don\u2019t have a gene mutation. In fact, inherited BRCA gene mutations are responsible for only about 5 percent of breast cancers, and about 10- to 15-percent of ovarian cancers.<\/p>\n

Some family history features which suggest you consider genetic counseling\/testing include:<\/p>\n

\u2022 multiple cases of breast and\/or ovarian cancer<\/p>\n

\u2022 breast cancer diagnosed under 50<\/p>\n

\u2022 cancer in both breasts<\/p>\n

\u2022 both breast and ovarian cancer in the same person<\/p>\n

\u2022 male breast cancer<\/p>\n

\u2022 Ashkenazi (Eastern European) Jewish ancestry.<\/p>\n

The National Cancer Institute advises that genetic testing for a BRCA mutation is not recommended for children, no matter their family\u2019s history. There are no risk-reduction strategies for children, and children\u2019s risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low.<\/p>\n

How Much Does Testing Cost?<\/strong><\/p>\n

Under the Affordable Care Act, genetic counseling, and BRCA1 and BRCA2 mutation testing, is usually covered by insurance, if certain criteria are met. Because there are several different types of tests, the cost of BRCA testing can range from $475-4,000. Genetic counselors are helpful in determining what type of testing is needed. Once a mutation has been identified within a family, testing for additional family members is less expensive.<\/p>\n

A Positive Test Result\u00a0<\/strong><\/p>\n

Several options are available for managing cancer risk in individuals who have tested positive for the BRCA1 or BRCA2 mutation. Two of the most popular options are enhanced screening and prophylactic (risk-reducing) surgery.<\/p>\n

Enhanced Screening: Women who test positive for BRCA1 and BRCA2 mutations may choose to start cancer screening at younger ages, and be tested more frequently than the general population. Both the American Cancer Society and the National Comprehensive Cancer Network recommend annual screening with mammography and\/or MRI for women who have a high risk of breast cancer. Clinical breast exams, as well as self-exams, can be instrumental in the early detection of breast cancer. Pelvic exams, blood tests and transvaginal ultrasound imaging are all methods of enhanced screening for other female cancers.<\/p>\n

Prophylactic Mastectomy: Some women, like Jolie, choose a more extreme level of prevention by undergoing surgery to have both breasts removed. This procedure is known as bilateral prophylactic mastectomy, and the goal is to eliminate as much of the at-risk tissue as possible.<\/p>\n

Women who decide to have prophylactic mastectomy often choose to have breast reconstruction surgery, either at the same time as mastectomy or at a later time. This risk-reducing surgery does not guarantee that a patient will never get breast cancer, as it is impossible for a surgeon to remove all breast tissue (tissue can reach under the armpits, as high as the collarbone and as low as the abdomen). But by removing the breasts, the risk of having breast cancer for those who carry the mutated gene drops by 90 percent.<\/p>\n

For some, the decision to have this surgery is a no-brainer. For others, it could take months, or even years, of contemplation. It\u2019s not like having a tooth pulled; this is major surgery, with its own set of potential complications, such as pain and infection. And for many women, the psychological and emotional aspects of this surgery are just as significant as the physical, as some may experience anxiety or depression about body image.<\/p>\n

Prophylactic mastectomy isn\u2019t for everyone. In fact, the Society of Surgical Oncology suggests that this surgery is only appropriate for women who have tested positive for a mutation of BRCA 1 or BRCA2, or women with a strong family history of breast cancer in multiple first-degree relatives and\/or multiple successive generations of family members with breast and\/or ovarian cancer (family cancer syndrome).<\/p>\n

Prophylactic Oophorectomy\/ Hysterectomy: Surgery to remove a woman\u2019s ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) can help reduce her risk of ovarian cancer. By removing the ovaries, a premenopausal woman also reduces her risk of breast cancer by eliminating a source of hormones that can fuel the growth of some types of breast cancer. In many cases, women who have made the decision to have this surgery will opt to remove the uterus and cervix, known as a total hysterectomy, to avoid uterine and cervical cancers.<\/p>\n

As with the prophylactic mastectomy, a prophylactic oophorectomy does not completely guarantee that cancer will not develop, because not all at-risk tissue can be removed. But there\u2019s no denying the mortality reduction associated with this surgery. Research reveals that women who underwent bilateral prophylactic salpingo-oophorectomy had a nearly 80-percent reduction in risk of dying from ovarian cancer, and a 56-percent reduction in risk of dying from breast cancer.<\/p>\n

Negative Aspects Of A\u00a0Positive Result<\/strong><\/p>\n

In most cases, knowledge is power. Testing positive for a BRCA gene mutation can certainly prompt carriers to be proactive in reducing their risk of cancer. But the National Cancer Institute points out that there are adverse effects, as well, stating: \u201cPeople who receive a positive test result may feel anxious, depressed or angry. They may have difficulty making choices about whether to have preventive surgery, or about which surgery to have. People who receive a negative test result may experience \u2018survivor guilt,\u2019 caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more loved ones.<\/p>\n

\u201cBecause genetic testing can reveal information about more than one family member, the emotions caused by the test results can create tension within families. Test results can also affect personal life choices, such as decisions about career, marriage and childbearing.\u201d<\/p>\n

It\u2019s Personal\u00a0<\/strong><\/p>\n

It\u2019s all about personal choice when it comes to genetic testing. If your family fits the profile, being tested may offer you the benefit of being proactive, instead of reactive.<\/p>\n

Sometimes, having a front-row seat to a cancer battle may be all it takes for a family member to decide to be tested. Watching loved ones suffer through this horrible disease, or even die from it, can certainly motivate relatives of cancer victims to want to know their odds.<\/p>\n

I\u2019ve asked several people, all of whom have multiple diagnoses of cancer within their families, whether or not they would want to know if they carry the mutated gene. The majority gave a resounding \u201cyes\u201a\u201d adding phrases like, \u201cfor my kids\u201a\u201d and \u201cno matter the cost.\u201d But those who felt differently backed their opposition by saying things like, \u201cI don\u2019t need the extra stress and worry,\u201d and \u201cI\u2019ll cross that bridge when I get to it.\u201d<\/p>\n

Nevertheless, one thing everyone can agree on is that we have options today that our ancestors couldn\u2019t have dreamed of. Science has certainly come a long way, and if we choose to embrace its advances, a simple blood test could change the course of our lives.<\/p>\n

————————————–<\/p>\n

\u201cLife comes with many challenges. The ones that should not scare us are the ones we can take on and take control of.\u201d<\/em><\/p>\n

\u00a0\u2014 Angelina Jolie<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

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