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Andi Sayson Ms. Kasyanik English 9H 2A 07 January 2013 The Role of the Relationship between Breast Cancer and Genetics in Medicine The apple doesnt fall too far from the tree is a saying from long ago that can be used in the medical world today. In this case, mutated genes that increase a persons risk for developing breast cancer may be passed onto children from their parents (Breast Cancer). This paper will discuss the background information of breast cancer and how the discovery of its relation to genes allows patients of each gender to understand their possibly heightened risk of developing it (Breast Cancer). Therefore they can choose their best option for their future wellbeing (Breast Cancer). The relationship between genetics and breast cancer leads to new discoveries that can potentially improve breast cancer treatments, thus giving patients with abnormal inherited genes a better chance of fighting breast cancer (Park). Background information on breast cancer will enhance the understanding of this topic. Breast Cancer acknowledges that it is a type of cancer that originates in the tissues of the breast. Breast Cancer also reports that breast cancer can be classified into two types: ductal carcinoma and lobular carcinoma. The most common type of breast cancer is ductal carcinoma, which begins in the tubes that transport milk to the nipples from the breast (Breast Cancer). Meanwhile, lobular carcinoma originates from milk-producing lobules (Breast Cancer).

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However, breast cancer may begin in other parts of the breast, but it is very uncommon (Breast Cancer). Breast cancer can be distinguished by its unique characteristics and similar symptoms for men and women. It can be confirmed (Breast Cancer) that breast cancer in its early stages does not typically exhibit any symptoms. Breast Cancer argues that this is why it is important for people to know that regular breast exams can make a huge impact in their lives. As the condition progresses, the most common sign is a lump in the breast or armpit that is hard with uneven edges and usually painless (Breast Cancer). Changes in the size, shape, or feel of the breast such as redness, dimpling, or puckering are other symptoms, as well as fluids coming from the nipples (Breast Cancer). According to Breast Cancer, men exhibit similar symptoms: breast lump, breast pain, and tenderness. However, it also reports (Breast Cancer) that symptoms such as bone and breast pain, skin ulcers, swelling of the arm(s) by the cancerous breast(s) and/ or weight loss hint that the condition has advanced. The risk of the developing breast cancer can be higher than average for people of certain ethnicities and family history of cancer (BRCA1 and BRCA2). The standard way of thinking about the development of breast cancer in individuals is that it is only influenced by their lifestyle factors. Despite this common belief, Genetics recently noted that approximately 1 in 10 cases of breast cancers may be due to the inheritance of abnormal genes. According to Genetics, the most common genes involved in hereditary cases of breast cancer are abnormal BRCA1 and BRCA2. BRCA1 means BReast CAncer Susceptibility Gene 1, while BRCA2 means BReast CAncer Susceptibility Gene 2 (BRCA1 and BRCA2). All humans have these two genes and their role is to repair any damage in the cells to ensure breast cells grow normal (Genetics). When they become mutated, they may be passed down from generation to

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generation (Genetics). The abnormal BRCA1 and BRCA2 genes increase the risk for breast cancer because they do not function properly (Genetics). BRCA1 and BRCA2 informs the public that the potential of carrying an abnormal BRCA1 or BRCA2 gene is higher for some people based on their familys medical history and ethnic background. Someone who does not have Ashkenazi Jewish ancestry is more likely to carry the abnormal genes if two first degree relatives were diagnosed with breast cancer (one was 50 years old or younger), if at least three first degree or second degree relatives had breast cancer at any age, if a first degree relative had bilateral breast cancer, if a first degree or second degree relative had ovarian cancer, or if a male relative had breast cancer (BRCA1 and BRCA2). For someone who is of Ashkenazi Jewish background, their risk for the genes go up if any first degree relative had either breast or ovarian cancer (BRCA1 and BRCA2). It also goes up if at least two second degree relatives on the same side of the family had breast or ovarian cancer (BRCA1 and BRCA2). Despite this, being a carrier for an abnormal BRCA gene does not automatically guarantee that someone will develop breast cancer (BRCA1 and BRCA2). Genetics also notes that there are other abnormal genes that have been linked to hereditary breast cancer, although they do not have the same amount of impact on increases of breast cancer risk rates and are infrequent. An ATM gene with abnormalities stops DNA from reparations, thus increasing breast cancer in certain families (Genetics). An abnormal p53 gene leads to the development of soft tissue cancer and those with this disorder have an increased risk for breast cancer along with other types of cancers (Genetics). An abnormal CHEK2 gene is unable to properly create a protein that halts the growth of tumors and may double someones risk of breast cancer (Genetics). A PTEN gene that is abnormal is unable to monitor the growth of cells and can cause higher risks for non-cancerous and cancerous tumors in the breasts

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(Genetics). Last, Genetics reports that females risk of being diagnosed with invasive lobular breast cancer increases with abnormal CDH1 genes. Genetic testing offers people with a family history of mutated genes knowledge on whether or not they have inherited those (Genetics). NewGene is a genetic test based in the U.K. that has the capability of diagnosing abnormal genetic conditions in half the time and cost as other standard tests and makes results available at a faster rate (NewGene). NewGene states that it involves sequencing and genotyping technologies, NewGene's clinical expertise and specially developed data analysis software that enables high volume testing of gene sequences to be undertaken at a level not previously possible. NewGenes gene sequencing process examines the regions for coding in BRCA1 and BRCA2 and identifies all the mutations there (NewGene). Because of this tests availability to European healthcare systems, people that may be at a higher risk for breast cancers in certain families will be identified earlier and treatment can begin sooner (NewGene). Meanwhile, OBrien acknowledges that newer developed testing can search for other smaller genetic factors rather than just the common mutations in BRCA1 and BRCA2. A genetic test called BreastNext examines 14 other genes whose abnormalities can be a factor to breast cancer development (OBrien). OBrien also introduces BART (BRAC Analysis Rearrangement Test), which is a new genetic test that looks for larger rearrangements in genes. The BART still examines BRCA genes but now looks for deletion or duplication of larger code sections, along with small mutations (OBrien). Although these two tests are not usually covered by insurance, they provide women valuable knowledge on their health and sense of relief for those who worry about harmful genes being passed down (OBrien).

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With knowledge on whether or not an individual has a mutated gene, they can take different steps to reduce their higher than average risk of breast cancer (Breast Cancer). Women with mutated genes may choose to undergo prophylactic mastectomy, which is removal of the breasts through surgery (Breast Cancer). It removes tissues in the breast so only a small amount of cells are able to develop into cancer, thus effectively slimming the risk of breast cancer up to 97% (Genetics). Women may also choose to undergo prophylactic ovary removal and cut their breast cancer risk up to half (Genetics). Another common option is regular screening because diagnosis of breast cancer in its early stages is when treatments work at its best (BRCA1 and BRCA2). Studies conducted on the relationship between breast cancer and genetics has led to a better understanding of the disease and may improve personalized treatments for those diagnosed with it (Park). Park informs people that the TCGA (The Cancer Genome Atlas) has done this by attempting to sequence tumor genomes from breast cancer. Their genetic study has led to the classification of breast cancer into four main categories (Park). Park reports that the scientists researching basal-like tumor subtype confirmed the connection between breast cancer and ovarian cancer when they discovered the two mutations where similar. Because of this Matthew Ellis, a professor of oncology and medicine believes that chemotherapy used in ovarian cancer, like platinum-based agents, might be effective against basal-type breast cancers, and powerful breast cancer agents likewise might prove useful against some ovarian cancers (Park). The TCGA genetic study also discovered in the related luminal A subtype and luminal B subtype that abnormal genes complex interaction may be factor as to why they occur (Park). Since luminal A cancer treatments are more successful than luminal B cancer treatments, mutations that differentiate them from one another are being set apart in attempt by health care providers

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to make luminal B cancer treatments be as effective as luminal A cancer treatments (Park). Park (2012) also acknowledges that scientists discovered two groups within the last HER2 cancers subtype. This led to the realization as of why specific HER2 are more effective towards certain women (Park). Those women who responded well may have mutated tumor that turns their HER2 receptors much more active (Park). Park demonstrates that by acquiring this new knowledge, health care providers now know to treat women with this mutation with specific HER2 specific treatments, such as Herceptin, because its drugs are able to have a better progress. There has also been a genetic breakthrough in studies conducted by VICC (VanderbiltIngram Cancer Center) on Triple-Negative breast cancer (Stuart). In their very recent study, they found different genetic alterations when they examined oncogenes and tumor suppressors with deep sequencing (Stuart). Along with this, mutations located in the PI3K pathway and the abundance of MYC, MCL1 and JAK2 were discovered and are believed to possibly help improve therapies (Stuart). From this, VICC is working on repeating the study and seeing if the same results occur when conducted on a bigger group of people (Stuart). If so, scientists will go from here and try develop therapies that are personalized for these women by applying a molecular concept (Stuart). According to Park, experts predict that years from now, those with cancer will have the genome of their tumor examined and its resulting analysis could provide the information needed for advanced personalized treatment. The relationship between breast cancer and genetics in medicine is clearly important for the fight against breast cancer (BRCA1 and BRCA2). Depending on family background, an individuals risk for breast cancer may be heightened (Genetics). Also, those with abnormal genes or family history of it are able to know their risk for breast cancer and choose how they want to help prevent it (Genetics). By gaining more information and a better understanding of

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the relationship between breast cancer and genetics, scientists can work towards improving health care programs for individuals with mutated genes (Park). By building on this knowledge and continuing research into it, the cure for breast cancer may be able to be found since there have been discoveries as to which cancerous cells are vulnerable to which types of substances (Park).

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Works Cited "BRCA1 and BRCA2: Cancer Risk and Genetic Testing." Cancer.gov. National Cancer Institute, 29 May 2009. Web. 10 Dec. 2012. <http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA>. "Breast Cancer." Health.nytimes.com. A.D.A.M., 15 Dec. 2011. Web. 10 Dec. 2012. <http://health.nytimes.com/health/guides/disease/breast-cancer/overview.html>. "Genetics." Breastcancer.org. Breastcancer.org, 17 Sept. 2012. Web. 10 Dec. 2012. <http://www.breastcancer.org/risk/factors/genetics>. "NewGene: New Genetics Test For Hereditary Breast Cancer Cuts Costs And TurnaroundTimes." Medical News Today. MediLexicon International, 16 May 2011. Web. 12 Dec. <http://www.medicalnewstoday.com/releases/225426.php>. O'Brien, Kathleen. "Breast Cancer Awareness Month: New Genetic Tests Shed Light on Family Risk." Nj.com. New Jersey On-Line LLC, 16 Oct. 2012. Web. 12 Dec. 2012. <http://www.nj.com/news/index.ssf/2012/10/breast_cancer_awareness_month.html>. Park, Alice. "Genetic Study Identifies Four Main Types of Breast Cancer." Time.com. Time, 24 Sept. 2012. Web. 10 Dec. 2012. <http://healthland.time.com/2012/09/24/geneticstudy-identifies-four-main-types-of-breast-cancer/>. Stuart, Dagny. "Vanderbilt Study Finds Diverse Genetic Alterations in Triple-negative Breast Cancers." VUMC Reporter. Vanderbilt University Medical Center, 07 Dec. 2012. Web. 15 Dec. 2012. <http://news.vanderbilt.edu/2012/12/vanderbilt-study-finds-diversegeneticalterations-in-triple-negative-breast-cancers/>. 2012.