Comprehensive Cancer Genetics Guide

Table of Contents

1. Introduction to Cancer

1.1 Intro ……………………………………………………………………………………………... 2

1.2 Understanding Cells …………………………………………………………………….…. 2

1.3 Cells and Cancer ………………………………………………………………………….…. 2

1.4 Causes of Cell Malfunction and Tumor Types ………………………………........ 3

2. Risks for Cancer

2.1 Who is at Risk for Cancer? …………………………………………………………….... 3

2.2 Risk Factors………………………………………………………………………………….. 3

2.3 Health Tips to Reduce Risk ………………………………………………………….…. 4

3. Relationship of Genetics and Cancer

3.1 Understanding Hereditary Cancer ………………………………………………...... 5

3.2 Genes Linked to Cancer ………………………………………………………………... 5-6

4. Cancer Genetic Screening Benefits

4.1 Awareness …….……………………………………………………………………………… 7

4.2 Ease of Use ………………………………………………………………………………..… 7

4.3 Coverage ……………………………………………………………………………………… 8

4.4 Accuracy ……………………………………………………………………………………... 8

5. How to Use Cancer Genetic Screening Kit

5.1 Getting Started ……………………………………………………………………………… 8

5.2 Necessary Information ………………………………………………………………….. 9

5.3 Shipping Information …………………………………………………………………….. 9

5.4 Screening Kit Package and Instructions for Use …………………………….... 9-10

5.5 Results and Next Steps …………………………………………………………………. 10

Introduction to Cancer

Intro

Being diagnosed with cancer and battling through its symptoms can be one of the most dreadful events a person can ever experience. Cancer is one of the most evolved medical diseases affecting all species of life and is also one of the leading causes of death that is plaguing humanity. Many would be surprised to find that most research studies discovered the disease of cancer to be dated as far back as tens of millions of years ago when dinosaurs roamed the earth. This disease has existed in every living civilization since then and continues to survive and thrive. Cancer is extremely harmful and can pose a threat to every living person. Numerous forms of the disease exist, which range in severity and can be found nearly anywhere in or on our bodies. Most people have only a basic knowledge and understanding of the intricacies of this disease and the complex method for how it initially starts.

Understanding Cells

Cells are the building blocks of life. Every living person has millions upon millions of microscopic cells that together make up our physical being. Our cells collectively work to keep the structure of our bodies maintained and promote growth when and where it is needed. Humans typically have a life expectancy of several decades and many humans throughout history have lived to be over a century old before passing. As we age, our cells will age with us, although these cells tend to live a much shorter life span. As our cells develop and get older, they naturally stop growing after a certain amount of time. Eventually, these cells will become defective and cease to exist. Once this occurs, the body will follow a natural process of dividing and reproducing new cells to take over for cells which have passed. The average life expectancy of a cell can range anywhere from 1 day to over a decade. Generally, the transition of the body’s replacing of defective and dying cells is a smooth process, but other times the adjustment can be severely problematic.

Cells and Cancer

The growth and division process of our cells presents a possibility of these actions being carried out improperly as the procedure occurs. In some instances, cells will go against nature’s intended sequence of events and will continue to unnecessarily grow and divide, unlike normal cells which only grow and divide for the purpose of cell replacement. These uncontrollable and continuously growing and dividing cells are known as cancer cells. As cancer cells follow their reproductive process endlessly, they begin to form clumps known as tumors. Over time, these tumors become stronger and begin to overpower and destroy non-cancerous cells. It is often wondered what causes these cells to become awry in the first place. While it may be scary to know that our cells can become impaired causing tumors to arise and heed growth inside our bodies, it’s helpful to gain a sound understanding of how these harmful cell malfunctions are initially caused.

Causes of Cell Malfunction and Tumor Types

Tumors are the result of necessary cell actions with unintended consequences which can lead to significant dangers for one’s health. These cells break away from their expected sequence of events due to subsequent damaging of the genetic material within them. These damages to the cells may come from a variety of both environmental and genetic factors. Tumors come in two forms, which are known as benign and malignant. Benign tumors are non-cancerous and in most cases are not life-threatening. These type of tumors grow slowly and are not expected to spread outside the primary area from which they are born. Malignant tumors, on the other hand, are dangerous and cancerous. These type of tumors are seen as life-threatening. Malignant tumors can grow rapidly and metastasize (spread) through the bloodstream or the lymphatic system to other areas of the body to wreak havoc and in worst cases, cause death.

Risks for Cancer and Health Tips

Who is at Risk for Cancer?

Cancer has the potential of striking anyone at any time. We are all at risk for developing cancer at some point in our lives. Some people may be considered high-risk for cancer, whereas other people may be considered low risk for cancer. Individuals who have previously had cancer are also at risk for developing cancer again, and possibly again after that. Those who are at higher risk are generally referred to as having an absolute risk and those who are at lower risk are generally referred to as having a relative risk. We could be diagnosed with cancer and never find out what the exact, underlying cause was that led to the disease in the first place. Learning more about what factors put us at a higher risk for a diagnosis of cancer gives us awareness and can aid in prevention of acquiring this disease.

Risk Factors

The disease of cancer can be caused by many factors. These factors that may lead to a cancer diagnosis can be environmental, genetic, or a combination of both. Many environmental components play a role in the development of cancer. These components include inhalation of chemicals, exposure to air pollution, overexposure to the sun, exposure to other forms of radiation, alcohol use, tobacco use, aging, and infections such as the human papilloma virus (HPV). On the genetic side of risk factors, possessing a hereditary predisposition such as personal and/or family history of cancer also presents a high risk for a future diagnosis. Family members may be carrying genes that are prone to cancerous mutations, or genes that have already mutated, which may then be handed down to younger generations through DNA transference. Hundreds of cancer-prone genes exist within the human body. A couple of the most well-known in the cancer community are the BRCA1 and BRCA genes which are linked to several of the most common forms of cancer in our society.

Health Tips to Reduce Risk

Although cancer is one of the leading causes of death in all societies throughout the world, numerous lifestyle practices have been discovered as preventative measures against the chances of acquiring this disease. Maintaining a healthy, well-balanced diet is one of the most important factors for reducing your risk for cancer. Consuming foods which are plant based has been shown to significantly assist the body in staying healthy, which in turn can help lower your cancer risk. This type of diet consists of mostly fruits, vegetables, beans, nuts, seeds, and whole grains. Benefits that have been discovered from plant-based diets include improvements in the body’s immune system, reduction in inflammation, lower cholesterol, and progressive weight management. In addition to reducing risk for cancer, plant-based diets can help decrease the risk for diabetes, heart attacks and strokes. Limiting red-meat consumption is also a highly recommended dietary practice, as overconsumption of red meat can also lead to some forms of cancer, as well as heart disease.

Along with maintaining a healthy diet, regular exercise is a strong combatant against cancer. Obesity can lead to over a dozen different forms of this disease. These forms of cancer include breast, colon, lung, liver, kidney, bladder, rectum, esophageal, endometrial, head, neck and stomach cancer, as well as myeloid leukemia and multiple myeloma. Exercising regularly helps to lose excess body weight and secure body weight in a healthy range. Most physicians and other healthcare providers recommend a moderate level of physical activity around 30 minutes a day. Walking, jogging, running, and other forms of cardiovascular and aerobic exercises, as well as strength training can significantly lower your chances of getting cancer.

Protection from excessive sun exposure is also important for reducing your risk for cancer. Sun exposure has long been known to cause wrinkles, freckles, and age spots but can also lead to skin cancer. These forms of cancer include melanoma, basal cell carcinoma, and squamous cell carcinoma. Skin cancer is also the most common form of cancer in the United States with Melanoma being the most common type. As the skin is exposed to the ultraviolet lights emitted from the sun, as well as tanning beds, the skin’s fiber breakdowns causing tears and abrasions. As this occurs, new cells are forced to replace old cells more quickly and they are susceptible to becoming tumorous. Early signs can include scaly, bumpy, waxy or patchy skin spots as well as moles. Skin cancer can be discovered anywhere on the body, mostly in areas that aren’t shielded from the sun.

Tobacco use also has a leading hand in the development of cancer. Numerous forms of cancer can be caused by tobacco including lung, esophageal, throat. larynx, liver, kidney, bladder, stomach, colon, cervix, and pancreatic cancer, along with myeloid leukemia. These can be caused by any form of tobacco consumption such as cigarettes, cigars, and smokeless/chewing tobacco. Hundreds of harmful chemicals are found in tobacco smoke and over 50 of them are known to cause cancer. This substance in any amount is dangerous and is highly recommended by most physicians to avoid and quit if currently using.

Relationship of Genetics and Cancer

Understanding Hereditary Cancer

In most cases a personal diagnosis of cancer is caused by environmental factors, but certainly not in all cases. Several forms of the disease have a chance of being a hereditary condition, meaning it truly runs in the family. Based on countless scholarly research studies, anywhere from 5 to 20 percent of cancers discovered in humans are of a genetic nature. These usually start out as a result of a person being exposed to poor environmental conditions which caused parts of this individual’s DNA to mutate, which is known as an acquired mutation. Once the mutation has occurred, future generations of the individual’s family are then susceptible to inheriting a gene mutation and developing a form of cancer that is specifically associated to the mutation. This is known as a germline mutation. Hundreds of genes that exist in the human genome have been discovered to possess a link to germline cancer mutations.

Genes Linked to Cancer

Close to 300 human genes are thought to possess a possibility for the growth of germline mutations, which are mutations in genes that are inherited from family members. These hereditary mutations can be associated with roughly 50 types of cancer syndromes, which may then lead to the development of cancer. Genes that may eventually lead to cancer usually derive from one of three categories- tumor suppressor genes, oncogenes, or DNA repair genes. Some of the most common genes that are subject to cancerous mutations are the BRCA 1 and BRCA 2 genes. These are associated with a high risk of breast, ovarian, prostate, and pancreatic cancers. Every human being has the BRCA 1 and BRCA2 genes and around 2-3 percent of us carries a mutated version of one of these genes. Another common gene with an increased risk for cancer as a result of a mutation is the CHEK2 gene. This gene is associated with a handful of cancers such as breast, ovarian, prostate, and colorectal cancer. Many of the genes which are found to have a link to an increased risk for cancer are related to melanoma, breast, colon, colorectal, ovarian, endometrial, prostate, and pancreatic cancers. Although these are the most likely locations, hereditary mutations may cause cancers on other parts of the body as well. Below is a list of some of the most common cancer-linked genes and which forms of cancer they may cause.

BRCA1/BRCA2- Breast, ovarian, prostate, pancreatic

CHEK2- Breast, ovarian, prostate, colorectal

TP53- Breast, bone, leukemia, sarcoma

MLH1- Prostate, ovarian, bladder, stomach

MSH2- Prostate, ovarian, bladder, stomach

MSH6- Prostate, ovarian, bladder, stomach

PSH2- Prostate, ovarian, bladder, stomach

PTEN- Breast, kidney, thyroid, melanoma

MUTYH- Breast, ovarian, bladder

CDKN2A- Melanoma, pancreatic

TSC1/TSC2- Kidney

PALB2- Breast

STK11- Breast, ovarian, pancreatic, stomach

APC- Stomach, pancreatic, liver

RB1- Eye

MEN1/MEN2- Thyroid

FLCN- Kidney

PALB2- Breast

EHBP1- Prostate

SMAD4- Stomach, bowel

BMPR1A- Stomach, bowel

EPCAM- Colorectal, endometrial, ovarian, stomach, prostate, pancreatic

ATM- Breast, ovarian, pancreatic, prostate

BRIP1- Breast, ovarian

CDH1- Breast, stomach

RAD51C/RAD51D- Breast, ovarian

TERT- Melanoma, leukemia, head, neck

EXT1/EXT2- Bone

NTRK1- Thyroid

MET- Melanoma, kidney

Cancer Genetic Screening Benefits

Awareness

Cancer is ranked number 2 in the world among leading causes of death. Knowing this can be scary for most people. Often times individuals are unaware of the chances they may have of being diagnosed with cancer and the associated suffering until it is too late. Many are unaware that options are available to help in providing an understanding of their risk for developing this disease. Genetic cancer screening bridges this gap by delivering awareness of the possibility you may have for getting cancer during your life based on your personalized DNA. As cancer can be acquired hereditarily, individuals who perform a genetic cancer screening can discover if certain cancers that family members have suffered from may be passed down through their genetics. By performing this test, you can find out how likely, or unlikely you will be in developing these forms of cancer. Through this form of testing, individuals may also discover variants associated with different cancer types that they were previously unaware ran in their gene pool. For parents, planning parents, and grandparents, genetic cancer screening also provides awareness for the likelihood of children or grandchildren inheriting familial gene mutations which may lead to cancer. Gaining this awareness allows individuals who test positive to take actionable steps in preventing a future diagnosis. Gaining this awareness also allows individuals who test negative to breathe a sigh of relief knowing they don’t carry genetically obtainable cancer mutations for themselves and the future generations in their family.

Ease of Use

Ordering and performing your cancer genetic screening test is easier than you may think. Upon being qualified for your screening, our company will ship your test kit directly to your home free of charge. This test is designed to be completed at home on your time. Our process eliminates the hassle you would have of traveling out to a lab testing facility or a doctor’s office to have the work completed. Of course, you also have the option to take your test kit to your healthcare provider’s office to perform the test under their instruction and supervision if you prefer to do so. The method of collecting your sample is performed using a soft oral, buccal (mouth) swab to gather a small amount of your saliva. As opposed to a blood draw conducted by phlebotomist or healthcare provider, this form of testing is painless and non-invasive. After using the swab to collect your saliva sample, you will simply place the swab back in a provided bag in the box to be safely preserved. Your box will then be shipped to our lab with prepaid shipping for our lab equipment to generate your results. We will then deliver your results to you and your healthcare provider as soon as they are ready.

Coverage

Many people would be surprised to find that they could be covered for a cancer genetic screening by their insurance. Apollo Genetics works with a variety of insurance types to help individuals receive our services. These insurance types include Medicaid, Medicare, Med Advantage, and some commercial/private insurance. Within these insurance types, we work with nearly all insurance companies. Our network is continuously growing to build a stronger insurance coverage base for allowing more individuals who seek our services to be covered. Once you are medically qualified, our billing team gets right to work in rapidly determining whether you are covered through your insurance plan, usually knowing same-day or next-day. We also offer additional options for those who lack coverage and/or would prefer to pay out of pocket. Through our self-pay program, you may elect to receive your cancer genetic screening at a discounted price. This route can also save you even more time by going outside of your insurance when ordering your genetic screening kit more directly.

Accuracy

Apollo Genetics uses exceptional-quality, state of the art technology to conduct our genetic screenings. Our lab equipment includes the Thermo Fisher QuantStudio 12K Flex Real-Time PCR system, which is among the highest-rated genetic lab systems available. Apollo Genetics is also regulated by CAP (College of American Pathologists) and CLIA (Clinical Laboratory Improvement Amendments) to ensure that we are delivering consistently accurate results of the highest standard. We understand the importance of providing our patients with the most precise results to lead them on a path to better health based on a valid screening outcome. Concerns about the possible inheritance of diseases such as cancer are delicate by nature and our company is devoted to providing the most exact results for your genetic screening.

How to Receive and Use Cancer Genetic Screening Kit

Getting Started

Apollo Genetics makes the germline testing process simple for our patients. Through our easy-to-navigate website, visitors can find educational information about the disease of cancer, how genetic screening improves the quality of life, and how to order your cancer genetic screening kit. You will see a button on our full-length cancer genetic screening page that when clicked will link you to a page designed for ordering your kit. You may also order your screening kit on the page from which this guide was downloaded by inputting your information in the submission form and clicking the button just beneath the form. Once you have submitted your information to us through our website, an experienced representative from our company will give you a call to assist you in qualifying for your cancer genetic screening kit. These phone calls are brief, usually lasting approximately 5-10 minutes in length. Your call will include a short introduction to our company, few qualifying questions to help you receive your test, and an explanation of the genetic screening process done through our lab.

Necessary Information

In order to help you understand if you are qualified for this genetic screening, a qualifying representative from Apollo will gather some needed information from you during your phone call with us. First, we will verify that the information you have submitted through our website is all correct and up to date. Next, we will ask you a few simple questions regarding your medical history. This will help us in helping you to receive your genetic screening kit. Once that has been completed, we will then move on to gather your healthcare provider’s name. You may provide a healthcare provider of your choice for whom you are currently seeing and feel comfortable with authorizing your test. In most cases, the best option is either your primary care physician or a doctor who has treated you for cancer in the past (ex. Hematologist/Oncologist/Urologist etc.). They will be most useful as they understand your background/medical history well and will be required for authorization of your genetic screening.

Shipping Information

Once we have received authorization from your healthcare provider for you to receive your genetic screening, we will send your screening kit directly to you. Apollo Genetics ships our testing kits through FedEx Ground and in some cases FedEx Overnight. The shipping process originates from our operations center, which is located at our corporate headquarters in Draper, Utah. Once your shipment reaches your local area, your testing kit package is then tendered over to USPS. From there, USPS will deliver the shipment of your screening kit to your place of residence, or the address we have on file for you if different. No signature is needed upon arrival. You will also receive a confirmation email with a tracking link to follow your package as it leaves our facility and reaches its destination.

Screening Kit Package and Instructions for Use

Your genetic screening kit will come in a blue-colored _ by_ box with an Apollo Genetics logo on top. Inside the box you will find 4 items. First, you will see some paperwork including the requisition form which we have already sent to your healthcare provider for their authorization. This requisition form will require your signature for consent to run your specimen at our lab. Second, you will see the oral/buccal swab which you will use to collect your saliva specimen. This item will be approximately 6 inches in length with a tube attached and will resemble a Q-Tip. Third, you will see the biohazard bag which will safely store your collected saliva sample as it is transported to our lab for testing. This item will be about 4 inches in width, about 6 inches in height, and will display a biohazard logo on top. Fourth, you will see a flat and round item which displays an Apollo Genetics logo. This item is a grip-grabber that allows you to gain a strong grip of your test kit supplies, as well as any other item you would prefer to use it for.

In addition to the requisition form included in your genetic screening kit, you will also have a set of instructions. These instructions will guide you on how to perform the buccal mouth swab test for gathering your DNA saliva sample. Upon deliverance of your screening kit, a specialist from our company will be giving you a call to walk you through how to properly perform the mouth swab procedure. This process of performing your at-home test is simple but we will be there by call to assist you through the necessary steps to ensure they are carried out correctly.

Results and Next Steps

In most cases, you will receive the results of your test in 2-3 weeks once our lab has received your specimen. Your comprehensive test results will arrive through USPS to the address you provided to us when qualifying for your genetic screening. You may also contact us at any time to request an address change if you prefer. Your results will also be mailed to your healthcare provider at the office of which you visit them. In your results, you will see a detailed outcome of genes tested including an explanation of either a positive variant, negative variant, or unknown variant found.

Once you have received your genetic screening results, you may then discuss the outcome with your healthcare provider. This will allow yourself and your healthcare provider to decide if a preventative care plan is necessary for improving your health. Your results will disclose whether positive variants, negative variants, and/or unknown variants were discovered. A positive variant means your screening revealed a genetic mutation that may lead to a future cancer diagnosis. A negative variant means no genetic mutation was found for the tested gene(s). An unknown variant means a discovery has been made of a genetic mutation that may or may not be cancerous. Your healthcare provider may also recommend genetic counseling for a more specialized interpretation of your results, any extra emotional support needed, and assistance in building a preventative care plan if a positive variant is discovered.