Author Archives: Johanna

Demystifying Mosaic Mutations

Posted on by
Dr. Diana Mandelker

Diana Mandelker, MD, PhD. Photo by Ethan Kavet.

The National Cancer Institute Cancer Currents Blog recently featured the work of MSK’s Dr. Diana Mandelker and her colleagues. A study published in Cancer Discovery reviewed data from more than 35,000 patients and identified 36 patients with mosaic mutations, alterations in cancer susceptibility genes (CSG) that occurred early in the patients’ embryonic development.

Researchers had believed these mutations were rare, instead thinking most cancer-causing genetic variations were due to heredity. This study found that they likely occur, at minimum, in 1 out of every 1,000 patients. Awareness of these mutations can help determine which screening, therapy, and reproductive counseling decisions are right for patients.

A Career of Advances in Pediatric Oncology

Posted on by
Dr. Richard J. O’Reilly

Dr. Richard J. O’Reilly

In a recent feature for OncLive, MSK’s Dr. Richard J. O’Reilly reflects on his influences and long career as a pediatric oncologist. Most striking are the great strides made in treating children with cancer:

“One has to think about the fact that when I was a resident, I was told that it was unethical for people to tell a parent that their child was going to survive leukemia. Unethical. […] Now we’re talking about 90% of kids with the most common type of acute leukemia, acute lymphoblastic leukemia, who can achieve durable remissions and cures. These changes…occurred initially through development of intensive combinations of chemotherapeutic agents coupled with the development of exceptionally effective methods for supportive care that have sustained kids extremely well.”

Still, Dr. O’Reilly continues to push for continued research and questioning the status quo, concluding the article saying, “Never be satisfied.”

New Guidance for High-Risk Breast Cancer Screening

Posted on by
Dr. Mark Robson

Dr. Mark Robson. Photo by Richard DeWitt.

A new study in JAMA Oncology found that women at increased risk of breast cancer due to ATM, CHEK2, or PALB2 genetic mutations benefit from screening MRI starting at ages 30-35 and mammography starting at age 40.

MSK co-author Dr. Mark Robson told Medscape Medical News that while this advice may lead to false positive screenings, it will also find cancers earlier and save lives. “What I was excited by is just how impactful the MRI screen was in terms of projected reduction in the risk of death. I thought that great,” Robson said.

Need advice on which screening plan is right for you? Speak to your doctor, and find out more about MSK’s Breast Screening Program.