Another genetic cause found for colorectal polyps and cancer

Polymerase Proofreading Associated Polyposis can be identified through genetic testing

colorectal polyps and cancer

Anyone with the inherited gene mutation PPAP has an increased risk for colorectal polyps and/or cancer.

People with a personal or family history of multiple colorectal polyps may be familiar with well-known hereditary syndromes causing colorectal polyposis and cancer. These include Familial Adenomatous Polyposis (FAP) and MYH Associated Polyposis (MAP). Recently, another syndrome was added to the genetics alphabet soup – Polymerase Proofreading Associated Polyposis, or PPAP for short. Continue reading

Gathering your family medical history

family medical historyIt’s not uncommon for younger family members to ask where their grandparents came from, where they lived or how many children they had. Playing detective to figure out the names, locations and relationships of older relatives or distant generations can be fun. Gathering your family medical history can be interesting, too, with the added value of helping the people you love. The results might reveal a family connection to inherited conditions and diseases. Uncovering these kinds of family links can help doctors take better care of your loved ones, including recommending screenings, genetic testing, and looking for early warning signs of disease, including cancer.

Jessica Everett and Victoria Raymond, U-M genetic counselors, say that red flags concerning cancer in your family’s medical history can include:

  • More than one relative with the same or related cancers
  • Being younger than average when diagnosed
  • Having more than one primary cancer
  • Having a rare or unusual cancer

More tips:

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Men’s heart health tips

Develop good habits early for a healthy heart later in life

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Adopting healthy habits at a young age can pay off as you age.

As we age, the stakes get higher for coronary artery disease (CAD). A man in his 70s has a higher risk of developing CAD than a man in his 20s. But CAD does not occur overnight.

Even at 20 years old, you can affect what happens to you and your heart health when you are older. Having an appropriate health maintenance exam to define your risk of diabetes, high cholesterol levels, high blood pressure and other cardiac risk factors is very important for heart health.

The role genetics plays

The single biggest risk factor for developing CAD is genetics. A person (man or woman) who has a family history of early-age CAD (usually defined as 55 or younger) needs to be extremely diligent about his or her heart health.

Even though you can’t change genetics, there are certain genetic risk factors that can be modified — and the earlier you start, the better. Continue reading

Revisiting your genetics – is one appointment enough?

genetics“I already went to see a genetic counselor and I was negative. So I don’t need to think about genetics anymore, right?” Actually, reconnecting with your genetic counselor every once in a while is a good idea. The field of genetic science is an ever-changing field. New discoveries are made all the time that can help us better understand the influence of genetics on a person’s health. For many people it is a huge relief when they revisit a genetics clinic and have testing that does not identify any mutations.

Why would anyone want to go back?

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Of mice and muscles: Dystonia discovery may help patients

Persistent team of U-M scientists study neurological condition that twists muscles of kids and adults

Dystonia causes muscles in the neck and limbs to twist or contract uncontrollably, in children and adults.

Dystonia causes muscles in the neck and limbs to twist or contract uncontrollably, in children and adults.

Twist and hold your neck to the left. Now down, and over to the right, until it hurts.

Now imagine your neck – or arms or legs – randomly doing that on their own, without you controlling it.

That’s a taste of what children and adults with a neurological condition called dystonia live with every day – uncontrollable twisting and stiffening of neck and limb muscles.

The mystery of why this happens, and what can prevent or treat it, has long puzzled doctors, who have struggled to help their suffering dystonia patients.

But a persistent team of University of Michigan scientists have finally opened the door to a new way of answering those questions and developing new options for patients.

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Family gatherings – a prime opportunity to create a family health history

thanksgivingA few years ago my cousin posted on our family Facebook page that his daughter had been diagnosed with a bone disorder. He asked if anyone else in our family had experienced a similar problem. What happened next was shocking to me. At least six of my other cousins said they had the same disorder. I had no idea! With 54 first cousins spread across the United States, (not to mention brothers, sisters, aunts, uncles and grandparents) it has become harder to keep up with all the changes in my family members’ lives. I am not alone, as many families struggle to stay in contact these days. And perhaps it’s time to think of creating a family health history! Continue reading