Author Interviews, Breast Cancer, Colon Cancer, Genetic Research, JAMA / 20.06.2024
Lifetime Cancer Risk with Germline CDH1 Variants
MedicalResearch.com Interview with:
[caption id="attachment_62041" align="alignleft" width="150"] Dr. Davis[/caption]
Dr. Jeremy L. Davis M.D.
Surgical Oncologist
Center for Cancer Research
Dr. Davis’ research focuses on sporadic and inherited forms of stomach cancer.
National Cancer Institute
MedicalResearch.com: What is the background for this study?
Response: Individuals who are born with a CDH1 gene mutation are at increased risk of developing specific cancers in their lifetime. Those cancers are called diffuse-type gastric cancer and lobular breast cancer.
The background that is relevant here is that when mutations in this gene were first identified as the cause of inherited forms of these cancers, the estimated lifetime risk of gastric cancer, for instance, was around 60-83%. Because of this very high risk and because gastric cancer is particularly difficult to treat, many experts recommend prophylactic surgery to remove the stomach. In recent years, as we have seen more families who carry a CDH1 gene mutation, we have also observed that gastric cancer rates did not seem quite as high as those risk estimates would have suggested. We sought to re-evaluate lifetime risk of cancer with a large and diverse cohort of individuals throughout North America.
Dr. Davis[/caption]
Dr. Jeremy L. Davis M.D.
Surgical Oncologist
Center for Cancer Research
Dr. Davis’ research focuses on sporadic and inherited forms of stomach cancer.
National Cancer Institute
MedicalResearch.com: What is the background for this study?
Response: Individuals who are born with a CDH1 gene mutation are at increased risk of developing specific cancers in their lifetime. Those cancers are called diffuse-type gastric cancer and lobular breast cancer.
The background that is relevant here is that when mutations in this gene were first identified as the cause of inherited forms of these cancers, the estimated lifetime risk of gastric cancer, for instance, was around 60-83%. Because of this very high risk and because gastric cancer is particularly difficult to treat, many experts recommend prophylactic surgery to remove the stomach. In recent years, as we have seen more families who carry a CDH1 gene mutation, we have also observed that gastric cancer rates did not seem quite as high as those risk estimates would have suggested. We sought to re-evaluate lifetime risk of cancer with a large and diverse cohort of individuals throughout North America.
Dr. Ulhas Nair[/caption]
Nishanth Ulhas Nair, Ph.D.
Affiliation: Staff Scientist at Cancer Data Science Laboratory, Center for Cancer Research
National Cancer Institute (NCI), National Institutes of Health (NIH)
Bethesda, Maryland, USA. Date: April 22, 2021
Dr. Raffit Hassan and Dr. Eytan Ruppin at the National Cancer Institute (NCI) are the senior authors of this study.
MedicalResearch.com: What is the background for this study?
Response: Malignant mesothelioma is an aggressive cancer with limited treatment options and poor prognosis. An in-depth knowledge of genetic, transcriptomic and immunogenic events involved in mesothelioma is critical for successful development of prognostics and therapeutic modalities. In this study we aim to address this by exploring a new large scale patient tumor dataset of 122 mesothelioma patients, called NCI mesothelioma patient data, along with their genomic, transcriptomic, and phenotypic information. Unlike previous large-scale studies which have been focused on malignant pleural mesothelioma patients, our dataset contains an approximately equal representation of malignant pleural and peritoneal mesothelioma patients which allows to identify any differences between them.