Genomed Genetic Cancer Screening

Early action saves lives. Understand your cancer risk

The genetics of Cancer

About half of all men and one-third of all women in the US will develop cancer during their lifetimes. Approximately 5% to 10% of all cancers are hereditary. An additional 10% to 30% have a close family member who also had cancer, suggesting a familial link even though no specific hereditary link was found. And 60% to 85% of cancer patients have what's called sporadic cancer, meaning the cancer does not seem connected to inherited genetic traits, or is the result of many different factors. In hereditary cancer, an increased risk of developing certain cancers is passed down through families via their genes. The past few decades have seen incredible advances in genetic knowledge, and we have now identified many genes associated with cancer. If you have an alteration in one of these genes, your risk of developing certain types of cancer is significantly higher than that of the general population.

Consideration for testing.

This panel may be considered for individuals with:

• a personal or family history presenting with multiple cancer types that could fit the features of more than one hereditary cancer syndrome
• a clinical history indicative of a hereditary cancer syndrome but a limited pedigree due to small family size or adoption

There are also some common general features suggestive of a family with a hereditary cancer syndrome. These include:

• cancer diagnosed at an unusually young age
• different types of cancer that have occurred independently in the same person
• cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)
• several close blood relatives that have the same type of cancer
• unusual cases of a specific cancer type (e.g., male breast cancer)

Clinical Description

The Invitae Multi-Cancer Panel analyzes 84 genes associated with hereditary cancers across several major organ systems. Individuals with a pathogenic variant in one of the genes on this panel have an increased risk of developing cancer, many of which may be difficult both to detect and to treat. Identifying those at elevated risk may guide implementation of additional screening, surveillance and interventions. These efforts may result in risk-reduction and early diagnosis, increasing the chances of successful treatment and survival.

Breast cancer
The average woman’s lifetime risk of developing breast cancer is ~12%. Although there are a number of other genes associated with hereditary breast cancer, hereditary breast and ovarian cancer syndrome (HBOC) due to pathogenic variants in the BRCA1 and BRCA2 genes accounts for most cases in individuals with a strong family history or early onset diagnosis.

Ovarian
The general population risk for ovarian cancer is ~1.3%. Lynch syndrome and hereditary breast and ovarian cancer syndrome (HBOC) are the most common causes of ovarian cancer. In addition, there are other genes on this panel associated with hereditary predisposition to ovarian cancer.

Uterine
The general population risk for uterine cancer is ~2.7%. Lynch syndrome is the most common inherited cause of uterine cancer, although there are a number of other hereditary cancer genes on this panel associated with this cancer type.

Colorectal
Colorectal cancer (CRC) is the third-most-common cancer diagnosis in the United States. Hereditary colorectal cancer syndromes are generally divided into two types: Lynch syndrome and polyposis syndromes. Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is caused by pathogenic variants in EPCAM, MLH1, MSH2, MSH6 and PMS2 and is the most common inherited cause of colorectal cancer. Polyposis syndromes are characterized by the development of numerous precancerous polyps, which may become malignant. This panel includes genes associated with both Lynch syndrome and polyposis.

Gastric
Gastric cancer occurs in ~1 in 93 individuals in the general population. Gastric adenocarcinomas account for 90%–95% of gastric cancers and are further histologically divided into intestinal type and diffuse type. One cause of hereditary gastric cancer is a pathogenic variant in CDH1, which causes hereditary diffuse gastric cancer syndrome. However, there are a number of other genes in which pathogenic variants increase the risk of gastric tumors. Gastrointestinal stromal tumors (GISTs) are characterized as sarcomas and are rare tumors of the GI tract that account for 1%–3% of all gastric cancers. This panel includes genes that increase risk for each of these types of gastric tumors.

Pancreatic
There are two main types of pancreatic cancer: cancer of the exonic pancreas (pancreatic adenocarcinoma), which accounts for 95% of pancreatic tumors, and pancreatic neuroendocrine tumors. Hereditary pancreatic cancer can be caused by BRCA2 and CDKN2A, as well as by several other genes. This panel includes genes that are most commonly associated with an increased risk for both types of hereditary pancreatic cancer.

Renal/urinary tract
The general population risk of developing kidney cancer is ~1.6%. The lifetime risk of developing bladder cancer is 1%–3.8%, with approximately 75,000 new cases diagnosed in the United States each year. Most cases are sporadic and isolated, but approximately 5% of urinary tract cancers are hereditary. Unlike sporadic cases, hereditary cancers of the kidneys and urinary tract are often characterized by earlier disease onset and multifocal or bilateral tumors. Hereditary urinary tract cancers may also be syndromic and associated with other non-urinary features.

Prostate
Prostate cancer is the fifth-most-common malignancy in the world. A man’s lifetime risk for developing this type of cancer is ~1 in 7 (15%). While most cases of prostate cancer are sporadic and not inherited, approximately 5%–10% of cases are hereditary. This panel includes genes that increase risk for prostate cancer.

Melanoma
Most cases of melanoma are isolated and sporadic. While the number of individuals who have an inherited risk of melanoma is unknown, it is thought to be low. An estimated 8% of individuals with melanoma also have a first-degree relative with melanoma and approximately 1%–2% of people with melanoma have two or more affected close relatives. This panel includes genes associated with a predisposition to melanoma.

Thyroid
Thyroid cancer occurs in ~13 per 100,000 individuals in the general population annually. The most common type of thyroid cancer, accounting for over 90% of all cases, is non-medullary thyroid cancer (NMTC). Approximately 3%–10% of NMTC cases have a familial component. Medullary thyroid carcinoma (MTC) is a relatively uncommon type of thyroid malignancy and is more strongly associated with hereditary cancer syndromes.The familial form of MTC accounts for 20%–25% of cases and is usually a component of multiple endocrine neoplasia type 2 (MEN2), including subtypes MEN2A and MEN2B, or presents as familial MTC (FMTC) syndrome. This panel includes genes associated with a predisposition to hereditary thyroid cancer.

Paraganglioma (PGL) and pheochromocytoma (PCC)
PGL are rare, adult-onset neuroendocrine tumors that may or may not be malignant. PGL can develop throughout the body, from the middle ear and skull base (called head and neck PGL, or HNP) to the adrenal glands (called pheochromocytomas (PCC)). Most cases are sporadic, but approximately one-third are familial and due to an identifiable pathogenic variant in a disease-causing gene. Familial PGL-PCC can be non-syndromic; however, it can also be a feature of an underlying condition such as neurofibromatosis type 1, von Hippel-Lindau syndrome or multiple endocrine neoplasia type 2. This panel includes genes associated with hereditary PGL-PCC.

Brain and nervous system (including central nervous system (CNS) and peripheral nervous system (PNS)
Pituitary adenoma (PA) is one of the most common types of intracranial tumors. Approximately 2% of all PA cases are attributable to FIPA (familial isolated pituitary adenoma) and the AIP gene accounts for ~20% of all FIPA cases. The general population risk for developing a CNS tumor is 0.55%–0.69%. PNS tumors are rare in adults and children; CNS tumors are the most common cancers among children ages 0–19. Approximately 5% of CNS tumors are hereditary and due to a pathogenic variant; the remainder are isolated and occur sporadically. Unlike sporadic cases, both hereditary CNS and PNS tumors may be syndromic and associated with extra-CNS features. This panel includes genes associated with hereditary predisposition to CNS and PNS tumors as well as a common cause of FIPA.

Sarcoma
A sarcoma is a rare type of cancer that develops from a variety of connective tissues including bone, soft tissue, fat, muscle, nerves, fibrous tissues, blood vessels and deep skin tissues. Sarcomas most often develop in the limbs, but they can be found in any part of the body. Most cases of sarcoma are sporadic and not inherited, but several known genetic conditions are associated with an increased risk of sarcoma. Inherited pathogenic variants in certain genes, such as those included on this panel, account for some cases of hereditary sarcoma. Individuals with pathogenic variants in these genes have an increased risk of developing sarcomas and, in some cases, other cancers as well.

Myelodysplastic syndrome (MDS)/leukemia
MDS and acute myeloid leukemia (AML) generally occur in the elderly population and the incidence increases with age. Cases of early onset MDS/AML in children or young adults may be associated with underlying genetic predisposition syndromes. Hereditary MDS or AML may present as part of a particular genetic syndrome that also has additional prominent clinical features. Non-syndromic familial MDS/AML is characterized by a strong family history of MDS or AML without other apparent phenotypic features. Familial occurrences of MDS/AML appear to be rare, but they may be underdiagnosed. This panel includes genes that may increase risk for MDS and leukemia.

What can genetic testing tell me?

A POSITIVE TEST RESULT CAN:

• Pinpoint your risk of developing cancer, enabling you to make informed medical decisions to reduce risk • Provide an explanation for your personal or family history of cancer
• Identify other at-risk relatives for whom genetic testing is recommended

A NEGATIVE TEST RESULT:

• Means that you do not have an alteration in the genes tested
• Your overall cancer risk depends on your medical history, family history, and environment

AN UNCERTAIN VARIANT TEST RESULT:

• Means that an alteration was identified, but it is not currently known if that alteration increases risk
• Should not be used to guide your medical care

Take action based on your results 

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

• increased or earlier screenings
• lifestyle modifications
• early intervention to prevent the onset of disease

TEST CODE: 008876

DIAGNOSTIC TEST FOR: ONCOLOGY MULTI CANCER PANEL
This test is designed to maximize diagnostic yield for individuals with a personal or family history of mixed cancers affecting multiple organ systems.
Our Multi-Cancer Panel analyzes 84 genes associated with hereditary cancers across major organ systems, including:

• breast and gynecologic (breast, ovarian, uterine)
• gastrointestinal (colorectal, gastric, pancreatic)
• endocrine (thyroid, paraganglioma/pheochromocytoma, parathyroid, pituitary)
• genitourinary (renal/urinary tract, prostate)
• skin (melanoma, basal cell carcinoma)
• brain/nervous system
• sarcoma
• hematologic (myelodysplastic syndrome/leukemia)

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

TURNAROUND TIME:
10–21 calendar days (14 days on average)

PREFERRED SPECIMEN:
3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS:
DNA or saliva/assisted saliva
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