Understanding Your Positive PTEN Genetic Test Result information for patients with a pathogenic mutation or variant, likely pathogenic

5 Things To Know

Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the 1 PTEN mutation PTEN gene.

PTEN hamartoma People with PTEN mutations have PTEN hamartoma tumor syndrome (PHTS). There are several 2 tumor syndrome syndromes that are a part of PHTS, and Cowden syndrome is one of them. (PHTS)

You have an increased chance to develop female breast cancer, thyroid cancer, uterine cancer, 3 Cancer risks kidney cancer, colorectal cancer, and possibly other types of cancer.

There are risk management options to detect cancer early or lower the risk to develop cancer. It is 4 What you can do important to discuss these options with your doctor, and decide on a plan that best manages cancer risks.

Family members may also be at risk – they can be tested for the PTEN mutation that was identified 5 Family in you.

PTEN Mutation Lifetime Cancer Risks (%)* PTEN Mutations in the Family There is a 50/50 random chance to pass on a PTEN up to mutation to your sons and daughters. The image 50 General below shows that both men and women can carry Population and pass on these mutations.

PTEN Mutation Carrier Has PTEN 12 up to up to mutation 10 10 increased increased increased 5 No PTEN mutation 1.1 2.7 1.6 2

Breast Thyroid Uterine Kidney Colorectal Melanoma Cancer Cancer Cancer Cancer Cancer

* The above cancer risks represent the typical range for individuals with a mutation in this gene. If available, cancer risks specific to the mutation found in you will be provided in your results report. Recent research suggests there are increased risks for kidney cancer, colorectal cancer, and melanoma, however these risks have not yet been well defined. Understanding Your Positive PTEN Genetic Test Result information for patients with a pathogenic mutation or variant, likely pathogenic

Your testing shows that you have a pathogenic mutation (a disease-causing change in Result mutation the gene, like a spelling mistake) or a variant that is likely pathogenic in the PTEN gene. Both of these results should be considered positive. Everyone has two copies of the PTEN gene, which we randomly inherit from each of our Gene pten parents. Mutations in one copy of the PTEN gene can increase the chance for you to develop benign (non-cancerous) and cancerous tumors in your lifetime. People with PTEN mutations have PTEN hamartoma tumor syndrome (PHTS). There Condition phts are several syndromes that are a part of PHTS, and Cowden syndrome is one of them. increased You have an increased chance to develop female breast cancer, thyroid cancer, uterine Cancer Risks cancer, kidney cancer, colorectal cancer, melanoma, and possibly other types of cancer. People with PTEN mutations may have other medical concerns, including: • A larger head size Other Medical may be • Colorectal polyps (non-cancerous growths) Concerns present • Lipomas (fatty bumps under the skin) • Other non-cancerous lumps and bumps • Autism Options for early detection and prevention for women may include: breast exam, Management mammogram, breast MRI, endometrial biopsy and/or endometrial ultrasound, and Options for women options for preventive surgery. Talk to your doctor about what options may be right for you. Options for screening and early detection for both men and women may include: Management for men & thyroid exam and ultrasound, kidney ultrasound, colonoscopies, or other options Options women depending on your personal and family history. Talk to your doctor about what options may be right for you. Risk management decisions are very personal, and the best option depends on many Risk Management varies factors. Screening typically begins earlier than the general population and is often more frequently performed. It is important to discuss these options with your doctor. Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the PTEN mutation that you carry, and other family 50/50 members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be Family Members chance tested for this same mutation. Depending on the family history, those who DO NOT have it may not have an increased chance (above the general population) to develop cancer. It is recommended that you share this information with family members so they can Next Steps discuss learn more and discuss this with their healthcare providers. • Ambry’s hereditary cancer site for families patients.ambrygen.com/cancer • Cleveland Clinic’s “The PTEN Study” lerner.ccf.org/gmi/research/pten.php • FORCE facingourrisk.org Reach Out resources • Genetic Information Nondiscrimination Act (GINA) ginahelp.org • National Society of Genetic Counselors nsgc.org • Canadian Association of Genetic Counsellors cagc-accg.ca

Please discuss this information with your healthcare provider. The cancer genetics field is continuously evolving, so updates related to your PTEN result, medical recommendations, and/or potential treatments may be available over time. This information is not meant to replace a discussion with a healthcare provider, and should not be considered or interpreted as medical advice.

50339.1537_v9 | 10.24.18 7 Argonaut, Aliso Viejo, CA 92656 USA Toll Free +1 866 262 7943 Fax +1 949 900 5501 ambrygen.com