Multiple genetic tests may detect more hereditary cancer syndromes

Up to 38.6% of people with hereditary cancer syndrome (including 6.3% of people with Lynch syndrome) may remain undetected by current universal tumor screening methods, and the colon and rectum At least 7.1% of people with cancer are identified according to new data released by scientists at The Ohio State University General Cancer Center (Arthur G. James Cancer Hospital and Richard J. Solab Institute (OSUCCC-James)) Possible hereditary gene mutations.

Experts say their data collected from a cohort of over 3,300 people Colorectal cancer Patients treated in 51 hospitals throughout Ohio have a strong scientific debate about performing multigene panel tests as part of standard treatment for all colorectal cancer patients.

“Finding ways to identify high-risk individuals among patients with colorectal cancer is very necessary to better manage the disease and proactively identify families who may be affected.” Said Rachel Perlman, MS, and LGC, the lead author of the study and genetic counselor. / OSUCCC Researcher — James. “Genetic screening has changed dramatically over the last decade, allowing us to screen many known individuals. Genetic mutation At a much lower cost. This is a powerful tool that we need to accept more widely. Cancer prevention And monitoring. “

Survey method and results

In this study, OSUCCC-James researchers used a multi-level genetic testing approach to dramatically increase a person’s lifelong risk of cancer, but it is often not detected until cancer develops. I wanted to know if I could better identify the genetic risk factors for sex (inherited by my family).

The researchers identified 3,310 adults who had surgery for invasive colorectal cancer between January 2013 and December 2016. Individuals were recruited as part of the Ohio Colorectal Cancer Prevention Initiative (OCCPI), funded by Perotonia, a state-wide research initiative led by Heatherhampel, MS, and LGC. .. Hampel is a member of the OSUCCC-James Molecular Carcinogenesis and Chemoprevention Program and is a professor and deputy director of the Department of Human Genetics at Ohio State University.

The study found newly diagnosed colorectal cancer patients and their biological relatives about Lynch syndrome, a condition that causes cancer when a person inherits a mutation in one of four genes. Started to screen. People with Lynch syndrome are at higher risk of developing colorectal cancer, endometrial cancer (uterine cancer), ovarian cancer, and stomach cancer than people at average risk.

All study participants underwent universal tumor screening for mismatch repair (MMR) deficiency. This feature is common in tumors in patients with Lynch syndrome and suggests that the tumor responds well to immunotherapy, a new cancer treatment that uses the body’s immune system to fight the tumor as needed.

Individuals who met at least one of the study selection criteria also underwent a multigene panel test to identify adverse mutations. Genetic testing criteria included: MMR deficiency. Diagnosis of colorectal cancer before age 50; multiple primary tumors (colorectal cancer / endometrial cancer); or first-time relatives of the colorectal or Endometrial cancer..

In this new analysis, researchers report that about 16% (525 patients) of participants had MMR deficiency and about 7% had hereditary mutations. Scientists point out that if universal tumor screening for Lynch syndrome was the only method used to screen for hereditary cancer syndrome, more than 38% of patients tested positive would have been overlooked. I will. This includes more than 6% of individuals with Lynch syndrome found. Through a method of testing multiple genes.

“This is an important and important finding. By using a pan-cancer multigene panel test for all patients with colorectal cancer, we have identified many individuals at high risk of developing future cancers and identified current cancers. We were able to identify a viable therapeutic target, “says Hampel, senior author of the study. “By adopting state-of-the-art testing methods as part of standard clinical practice for patients with colorectal cancer, we can save literally thousands of lives through early detection and monitoring of other patients. Family members People at high risk of developing cancer It is based on hereditary genetic mutations. ”