#43 Lynch Syndrome

#43 Lynch Syndrome

March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25!

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Episoder(412)

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic ...

11 Sep 30min

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchar...

4 Sep 43min

#409 How DNA Testing Exposed the Dark History of American Adoption

#409 How DNA Testing Exposed the Dark History of American Adoption

What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are s...

28 Aug 43min

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later i...

21 Aug 37min

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career? Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attr...

14 Aug 39min

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour...

7 Aug 30min

#405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage

#405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage

Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward. Behind the scenes, insurance coverage decisions, documentation requirements, prio...

31 Jul 34min

#404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane

#404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?   Tyler Mane is known for playing Sabretooth in X-Men and Deadpoo...

24 Jul 21min

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