The PALB2 gene

An update on cancer risks and indications for referral for genetic counseling

PALB2 geneThe PALB2 gene, which is also called the partner and localizer of BRCA2, is a gene that contributes to inherited susceptibility to breast cancer and perhaps ovarian and pancreatic cancers. The PALB2 gene contains the directions for making a protein that acts together with the BRCA2 protein. When they are functioning normally, these two genes work together as tumor suppressors.

How does cancer start at the genetic level?

Most cancers occur when two mutations in a tumor suppressor gene occur in a single cell during a person’s lifetime. Some individuals inherit an altered copy of a tumor suppressor gene. If a second mutation occurs in the tumor suppressor gene in any cell of their body, a tumor may develop. Since they already have an altered tumor suppressor gene in all of the cells of their body, individuals with an inherited mutation in a tumor suppressor gene are more likely to develop cancer.

Cancer due to an inherited alteration in a tumor suppressor gene is more likely to occur at a younger age (for example, Continue reading

Trained to screen patients for colon cancer, nurse finds a genetic link to this disease in her own family

Lynch syndrome

The Sylvest family tree includes Lynch syndrome, a genetic disorder that can cause cancer.

Lisa Sylvest is a cancer survivor who never met her father Karl’s parents. They lived in Denmark with their other son and daughter. Growing up, Lisa simply knew that her grandmother died at age 54 of a ‘female’ cancer. When Lisa was in high school, Karl’s brother died of brain cancer, also at age 54. Time passed, Lisa entered nursing school and her father’s sister developed endometrial cancer. Lisa traveled to Denmark to meet her relatives face-to-face for the first time.

When her father was diagnosed with advanced colon cancer at age 68, Lisa was a U-M Health System nurse working in gastroenterology, which deals with stomach and intestinal disorders. Her Continue reading

It’s not just girl talk: Including men in breast cancer genetic counseling

men and breast cancer genetic counselingThere is no question that breast cancer disproportionately affects women – but we shouldn’t be so quick to dismiss the risk to men. As we continue to learn more about the ways our genes influence our cancer risk, involvement of male relatives in genetic counseling and genetic testing can provide important information for your family’s breast cancer risk evaluation. So why are men often forgotten?

Myth One: Men don’t carry mutations in breast cancer genes.

Continue reading

Uterine sarcoma – a little known cancer

uterine sarcSomeone called the Cancer AnswerLine™ recently with questions about uterine sarcoma and I spend some time talking with her. This is a fairly rare condition which comprises only 2%-5% of all uterine cancers. Since July is Sarcoma Awareness Month, what better time than now to share these notes?

What is uterine sarcoma?

Sarcoma is a term used to describe a whole family of cancers that arise in the body’s connective tissues, which include, fat, muscle, blood vessels, deep skin tissues, Continue reading

Screening may boost liver cancer survival rates

liver cancer screeningScreening isn’t necessarily effective for all cancers, but primary liver cancer is one type of cancer where those at high risk, such as persons with hepatitis B or C or cirrhosis, may benefit from screening (the use of tests to look for the presence of disease before symptoms appear). Primary liver cancer, also known as hepatoma or hepatocellular carcinoma (HCC) is the most common form of liver cancer in adults according to the American Cancer Society.

Screening for HCC can begin as young as 40 and involves measuring alpha-fetoprotein (AFP) blood levels and Continue reading