Lynch syndrome is an inherited condition that increases an individual’s risk for certain types of cancer. It’s caused by a mutation in any of five specific genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. People born with a mutation in one or more of these genes have a significantly increased risk of developing colorectal or uterine cancer and a somewhat … Read more
For a while, Stephanie Dobson attributed her gastrointestinal issues to her pregnancy. It was her second, a girl born in May 2023, a baby sister to her son. But when the symptoms persisted for the 34-year-old mother, she raised the issue with her primary care provider. She was encouraged to see a gastroenterologist. On an … Read more
People who inherit mutations in the BRCA1 or BRCA2 gene are at heightened risk for a variety of cancers, including breast, ovarian, prostate, and pancreatic. It’s estimated that one in 300-400 people in the general population carry a mutation in either of these genes. Among people of Ashkenazi (Eastern European) Jewish descent, the prevalence is … Read more
A gene mutation is a change in the genetic instructions in a cell. Genes are the DNA-encoded instructions for building proteins, which are the machinery that does the work inside our cells and our bodies. Some mutations change the function of proteins in ways that increase the risk of cancer or drive its growth. Gene … Read more
Results of several phase 3 trials and dozens of other studies led by Dana-Farber researchers were presented online and in person June 3-7 at the 2022 Annual Meeting of the American Society of Clinical Oncology (ASCO), the world’s largest clinical cancer research meeting. Some of the research reports presented by Dana-Farber investigators include: Improved progression-free … Read more
Because of his adopted family’s cancer history, the director of Dana-Farber’s Lynch Syndrome Center, Matt Yurgelun, MD, is uniquely invested in helping patients with Lynch syndrome — a common and often under-diagnosed inherited condition. Eight of the 13 in his grandfather’s generation ultimately developed some form of cancer, and it wasn’t until later that Matt … Read more
A relatively small proportion of breast cancers are caused by alterations in inherited genes that sharply increase the lifetime risk of developing breast cancer. One of these genes has recently been receiving new attention: PALB2, a potent breast cancer susceptibility gene related to the better-known BRCA1 and BRCA2 genes. Someone who inherits a PALB2 mutation faces … Read more
What is the BRCA gene? BRCA1 and BRCA2 play a big role in preventing cancer. They belong to a class of genes called tumor suppressors, which ensure that breast, ovarian, and other types of cells don’t grow or divide too rapidly or uncontrollably. BRCA testing checks for mutations in either gene, and can help people decide … Read more
When Dana-Farber launched its new Center for BRCA and Related Genes in August 2020, it was with patients like Janice Dolnick in mind. Dolnick’s cancer journey had already been a long one before she came to Dana-Farber for a consult in 2018. Over the previous 21 years, she’d been through two rounds of breast cancer … Read more
Patients with Lynch syndrome, who have an elevated risk of colorectal cancer, can reduce their risk by taking daily aspirin — and the protective effect persists for many years, according to the latest definitive study. This evidence comes as a result of a clinical trial in which all subjects were followed for at least 10 … Read more
As one of three family members with the same first and last name, John E. Duggan found individuality through initials while growing up — becoming universally known as “Jed.” Having survived both stage III colon cancer and thyroid cancer before age 30, he is refusing to let another familial tie get him down. Duggan has MUTYH-associated polyposis (or MAP), … Read more
Martha Pena has endured breast cancer twice (once in each breast), lung cancer that metastasized to her brain, and stomach (gastric) cancer — all by age 40. Now 42, she is receiving ongoing treatment for her lung and gastric cancer at Dana-Farber, where she was also diagnosed with Li-Fraumeni syndrome (LFS), a rare hereditary condition … Read more
This article was written by Donna Vatnick, BS, clinical research coordinator in Dana-Farber Cancer Institute’s Center for Cancer Genetics and Prevention. Historically, cancer risk has been confined to the binary: male versus female. After the discovery of BRCA1 and BRCA2 in the mid-90s, testing of these genes was most often recommended to women. The substantially … Read more
While screening for pancreatic cancer is not recommended for people at average risk of the disease, screening is recommended for those who carry an inherited genetic mutation associated with pancreatic cancer and have a family history of the disease. (Mutations are abnormal stretches of DNA that alter how cells grow and divide.) People with an … Read more
While the vast majority of people diagnosed with cancer do not develop a different malignancy later in life, it’s important for survivors to be aware of factors that can put them at risk. People who have had cancer may in some cases have a higher than average risk of developing a new cancer — that … Read more
Breast cancer survivor Jennifer Perry is at high risk of additional cancers during her lifetime because she carries an inherited mutation for Li-Fraumeni syndrome (LFS). But experts at the new Li-Fraumeni Syndrome and TP53+ Center at Dana-Farber Cancer Institute can help her manage that risk. While there is no treatment for LFS — a familial … Read more
CHEK2 is the abbreviated name of the gene called checkpoint kinase 2. The gene provides cells with instructions for making the protein CHK2, which becomes active when DNA within the cell is damaged or strands of DNA break. What does the CHK2 protein do? CHK2 and other proteins respond to DNA damage by halting cell division and … Read more
Kerry Evers was always concerned that, due to a family history of the disease, cancer could be in her future. Her grandmother, father, uncle, and several of her cousins had been treated for different cancers throughout the course of her life. But Evers’ clearest indication of her chances of developing cancer resulted from learning her … Read more
Genomic testing, a newer field to genetics, refers to the process of observing an entire genome (genes that make up an organism) of an organism; for example, the human body. A person has about 25,000 different genes that are made up of about 3 billion DNA units. What is the difference between genomic and genetic testing? … Read more
If you carry BRCA1 or BRCA2 gene mutations, you may be at an increased risk of developing certain types of cancers — but it’s important to understand that cancer genetics are complex and other factors influence risk as well. Depending on certain factors like family history, it may be advisable to seek proper genetic counseling … Read more