Hereditary Cancer Syndrome


A hereditary cancer syndrome is a genetic disorder in which inherited mutations in various genes predispose individuals to the development of cancers such as breast, ovarian, colorectal, endometrial, gastric, prostate, pancreatic cancers, and melanoma. These form approximately 5 to 10 percent of all cancers. Currently genetic mutations associated with over 50 hereditary cancer syndromes have been classified and family members harboring these changes can be identified through genetic testing.

Most cancer syndromes are inherited through autosomal dominant pattern. The mutated gene is a dominant gene located on one of the non-sex chromosomes (autosomes). Only one mutated (affected) gene is needed for manifestation of symptoms.

Early identification of affected individuals through appropriate testing can lead to appropriate surveillance measures, early diagnosis, and improved treatment options, thus improving patient outcome as a whole. In addition, it serves to motivate other individuals of the same family to undergo genetic testing if affected individual is a primary case.



The Myriad myRisk™ Hereditary Cancer test is a scientific advancement revolutionizing hereditary cancer testing.

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Personalized Cancer Therapy Test Panels

Unique genetic information about cancer can be obtained to help in making treatment recommendations. Information that can be obtained from targeted sequencing and mutation analysis may include prognostic indicators, improved disease classification, additional therapies, or relevant clinical trials.

CANCERSELECT™ utilizes a 88 cancer gene panel for the detection of genetic alterations in well-characterized cancer genes, having either approved-therapies or active clinical trials. These genes are of clinical and biologic importance and are screened using next generation sequencing at high coverage (>500x) to identify point mutations, copy number alterations, and rearrangements.

CANCERCOMPLETE™ is a more comprehensive test that looks at 20,766 genes in the cancer cells.



CANCERSELECT™ examines the 88 most important cancer genes. CANCERCOMPLETE™ is a more comprehensive test that looks at 20,766 genes in the cancer cells.

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Breast Cancer

Hereditary Breast and Ovarian Cancer

The genetic basis of HBOC is a germline (inherited) mutation in either the BRCA1 or BRCA2 genes. Normally, the proteins produced by the BRCA1 and BRCA2 genes prevent cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-stranded DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, greatly increases the probability of malignant transformation and cancer. Approximately 7% of breast cancer and 11 – 15% of ovarian cancer cases are caused by BRCA1 or BRCA2, which are inherited in an autosomal dominant pattern. When assessing hereditary cancer risk, a patient’s personal and family history is collected to investigate the risk for HBOC. Once a patient is identified as being at increased risk of HBOC, genetic test results provide the most accurate means of cancer risk assessment for a patient.

Necessity of Chemotherapy

In 2012, 1.7 million women were diagnosed with breast cancer and there were 6.3 million women alive who had been diagnosed with breast cancer in the previous five years. But breast cancer is not always the same thing, and thus each treatment should be based on an individual decision.

EndoPredict® is the only test of its kind to combine the established clinical prognostic factors of tumour size and lymph node status with the genetic fingerprint of the tumour (EP score) into the «EPclin Score». As could be demonstrated in numerous clinical trials, this combination provides valuable additional prognostic information to make an informed treatment decision.



The BRACAnalysis® test assesses a person’s risk of developing hereditary breast or ovarian cancer based on the detection of mutations in the BRCA1 and BRCA2 genes.

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EndoPredict is a prognostic 2nd generation IVD gene expression test to determine the risk of distant metastases in patients with estrogen receptor positive, HER2-negative primary breast cancer.

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Colorectal Cancer

Lynch Syndrome

Lynch Syndrome (also known as hereditary nonpolyposis colorectal cancer) is an inherited condition that increases the risk of a person developing many type of cancer, particularly colorectal cancer. People with Lynch syndrome also have an increased risk of endometrial (uterine), ovarian, and stomach cancer. About 3% to 5% of newly diagnosed colorectal cancers are believed to be caused by this syndrome, with 80% of affected individuals later going on to develop other types of colorectal cancer in their lifetimes.

Polyposis Syndrome

Individuals with hereditary mixed polyposis syndrome (HMPS) have a tendency to develop polyps, or growths, in the digestive tract. A variety of polyps may occur, of which some types may become malignant while others may be relatively benign. HMPS has been linked to increased risk of colorectal cancers in the afflicted individuals.

Once a patient has been identified as being at increased risk for one of the hereditary polyposis syndromes, genetic test results provide the most accurate means of cancer risk assessment for a patient. It is important to note that approximately 20% to 30% of familial adenomatous polyposis cases are caused by new mutations, meaning that an APC germline mutation may be present in an individual even if it is absent in both parents. Also, due to the autosomal recessive inheritance pattern of MYH-associated polyposis, many affected patients have no relatives with colorectal polyps or cancer. Genetic testing is the only way to identify truly at-risk family members.



COLARIS® testing assesses a person’s risk of developing hereditary colorectal cancer and a woman’s risk of developing hereditary uterine/endometrial cancer by detecting disease-causing mutations in the MLH1, MSH2, MSH6 and PMS2 genes.

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COLARIS AP® testing assesses a person’s risk of developing hereditary colorectal polyps and cancer by detecting mutations in the APC and MYH genes.

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Prostate Cancer

Optimal management of clinically localized prostate cancer presents a unique challenge to physicians, because it is a highly variable and often slow growing, non-aggressive cancer. While, clinical parameters, such as the Gleason score and PSA levels continue to serve as the standard measurement for prostate cancer severity, they do not measure the true hallmark of cancer — cell proliferation. As such, traditional measures for assessing prostate cancer risk don’t provide all the information needed to appropriately weigh treatment options.

Prolaris®, a novel genetic test for prostate cancer from Myriad Genetic Laboratories, combines traditional risk factors with a molecular assessment of the aggressiveness of an individual patient’s cancer. Prolaris® provides unique information about a patient’s cancer and can help doctors make the most informed treatment decisions.



Prolaris® testing assesses the prostate cancer aggressiveness in conjunction with other clinical parameters.

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Skin Cancer

Melanoma is a cancer arising from the pigment containing melanocytes of the skin. The risk factors for skin cancer include increased exposure to UV radiation from natural sunlight or artificial sources. There are approximately 70,000 new cases of melanoma diagnosed every year. When diagnosed early, it is curable, but delayed diagnosis often proves fatal. The skin lesions appear on the face or other sun-exposed areas and can take 5-15 years before they become invasive.

The risk factors for Hereditary Melanoma include exposure to UV radiations, fair skin, numerous moles and family history of Melanoma. Approximately 10% of these melanoma cases are hereditary. This lays stress on genetic testing to look for gene mutations correlated with increased risk for the development of Melanomas. Inherited mutations in the p16 tumor suppressor gene are considered to be associated with increased occurrence of Melanomas. Genetic Testing with MELARIS® helps for early identification of risk of developing Hereditary Melanoma, for surveillance to detect transformation into cancer, or adopt lifestyle modifications to prevent/delay cancer occurrence. In addition, negative tests for genetic mutations would avoid unnecessary interventions in individuals with positive family history of skin cancers.



Melaris® is a test developed by Myriad Genetic Laboratories that measures a person’s risk of developing hereditary melanoma.

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Pancreatic Cancer

Pancreatic Cancer is the fourth leading cause of cancer death for both men and women. It accounts for 3% of all cancers in the US and accounts for about 7% of cancer deaths. With small-sized pancreatic cancers detected early, and in the absence of lymph node spread, the five-year survival rate approaches 25%.

The risk factors for development of Pancreatic Cancer include people with two or more relatives who have had pancreatic cancer, cigarette smokers, people of Ashkanazi Jewish descent, and persons with BRCA2, p16, STK11 gene mutations, or chronic pancreatitis, and persons aged over 50 years.

Hereditary Pancreatic Cancer is a genetic disease caused by mutations in DNA. These mutations can be inherited from either parent or can be acquired. Inherited DNA changes are thought to cause as many as 10% of pancreatic cancers. Genetic tests look for the gene mutations that cause inherited conditions. PANEXIA®is a genetic test to analyze PALB2 and BRCA2 genes. A positive genetic test result would help provide surveillance to individuals with mutations for early diagnosis. A negative genetic test result would avoid unnecessary interventions with family history of pancreatic cancer.

Because pancreatic cancer can be present in multiple hereditary cancer syndromes, it could also be useful to use a gene panel test such as Myriad myRisk™ to identify patients who may be at greatest risk so they can take steps to lower their risk.



PANEXIA™ testing assesses a person’s risk of developing hereditary pancreatic cancer. PANEXIA® offers insights about the risk of future hereditary cancers for patients and their families.

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