Checking CHEK2: Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care

CHEK2 pathogenic variants (PVs) are frequently found in patients who undergo germline genetic testing for cancer predisposition. There is a wide spectrum of cancer risks associated with CHEK2 and some variants are common and associated with attenuated risks. We will present data from our recent CHEK2 manuscript which delineates lower risk variants and expands upon the cancer phenotype associated with CHEK2 mutations (PVs).

Level of Instruction: Advanced

Staff Portraits. Huma Rana, M.D.
Huma Rana
Clinical Director, Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute Assistant Professor of Medicine, Harvard Medical School
Huma Q. Rana, MD, MPH is the Clinical Director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute, and Assistant Professor of Medicine at Harvard Medical School.  At Dana-Farber and its regional campuses, Dr. Rana oversees the medical management and the clinical operations that provide care to individuals with genetic susceptibility to […]

Huma Q. Rana, MD, MPH is the Clinical Director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute, and Assistant Professor of Medicine at Harvard Medical School.

At Dana-Farber and its affiliates and satellites, Dr. Rana oversees the medical management and the clinical operations that provide care to individuals with genetic susceptibility to cancer.

In addition to her clinical work, Dr. Rana leads multiple research studies focused on defining cancer genetic phenotype-genotype associations to inform the development of cancer prevention and screening. She also studies novel approaches to genetic testing in an effort improve access to cancer genetics services among diverse patient populations.

Dr. Rana received her medical degree from the Rutgers Robert Wood Johnson Medical School, completed her residencies in Internal Medicine and Clinical Genetics at the Icahn School of Medicine at Mount Sinai, and received her MPH from the Harvard T.H. Chan School of Public Health.

She has been a member of the Dana-Farber faculty since 2012.

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Brittany Bychkovsky
Medical Oncologist, Dana-Farber Cancer Institute Instructor of Medicine, Harvard Medical School

Dr. Brittany Bychkovsky is a medical oncologist at Dana-Farber Cancer Institute and an instructor of medicine at Harvard Medical School. Her clinical practice and research interests span the cancer continuum from prevention to end-of-life care. She is passionate about cancer genetics and advocating for improved access to cancer genetic testing among diverse populations who may harbor a pathogenic variant in cancer gene. Dr. Bychkovsky is a graduate for Harvard Medical School. She completed residency training at Massachusetts General Hospital, and fellowship at Beth Israel Deaconess Medical Center. She has practiced at Dana-Farber Cancer Institute since 2015 when she completed her fellowship. Dr. Bychkovsky has specialized in breast oncology and cancer genetics. Today she will talk about a recent publication on CHEK2 in JAMA Oncology.

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Candace Peterson
Genomic Science Liaison II, Ambry Genetics
Candace Peterson, MS, CGC is a licensed, certified genetic counselor who received her MS in Human Genetics from Sarah Lawrence College in Bronxville, NY. Prior to joining Ambry as a Genomic Science Liaison for the North Atlantic Region in 2020, she was a clinical oncology genetic counselor for 16+ years and most recently was Manager & Sr. Genetic Counselor at Lehigh Valley Health Network in Allentown, PA . She is passionate about training and educating genetic counselors, nurses, and other medical professionals. She previously taught Cancer Genetics courses at Arcadia University and Fox Chase Cancer Center. In addition to providing clinical support and education to healthcare providers, Candace works closely with Ambry’s Comprehensive Assessment Risk and Education (CARE) program and helps coordinate Cases Café, a national education genetics case conference webinar series.