Cancer

Chronic lymphocytic leukemia exome and genome-wide association studies

Susan L. Slager, Ph.D., is researching chronic lymphocytic lymphoma. She has requested whole-exome sequencing data from 89 Biobank participants to compare with data from patients who have chronic lymphocytic lymphoma that she has recruited through a separate study. Her goal is to determine genetic markers associated with risk of chronic lymphocytic leukemia.

T-cell lymphoma

Andrew L. Feldman, M.D., is researching T-cell lymphoma, a type of blood cancer. He has requested whole-exome sequencing data from 89 deceased Biobank participants to compare with whole-exome sequencing data from patients with T-cell lymphoma that he has recruited through a separate study.

Comparing the T-cell lymphoma whole-exome sequencing data with the data in the Biobank will help Dr. Feldman identify which genetic variants may play a critical role in the development of lymphoma and which genetic variants are commonly seen in healthy individuals.

Assessing the risk factors for extrahepatic cholangiocarcinomas

Lewis R. Roberts, M.B., Ch.B., Ph.D., is researching whether use of metformin, a medication used to treat diabetes, or inflammatory bowel disease are linked to a person's risk of developing extra-hepatic cholangiocarcinoma, a type of liver cancer.

He has requested to review medical information on 2,000 Biobank participants without a history of cancer to compare to patients with extrahepatic cholangiocarcinoma that he has recruited through a separate study. His goal is to better understand factors influencing the development extrahepatic cholangiocarcinomas.

Aneuploidy detection in plasma for pancreatic cancer

W. Edward Highsmith Jr., Ph.D., is researching abnormal numbers of chromosomes (aneuploidy) in pancreatic tumors. Chromosomes are packages of DNA that are passed on from parents to children. Humans have 46 chromosomes and having too many or too few chromosomes causes disease, such as Down syndrome. Tumors are known to also have altered numbers of chromosomes. He has requested samples from 30 Biobank participants without a history of cancer.

Dr. Highsmith is researching new ways to detect tumor aneuploidy because current detection methods are not useful for early tumor detection. His goal is to evaluate the feasibility of the early detection of pancreatic cancer by detection of aneuploidy in plasma, a component of blood, using next-generation sequencing.

Chronic lymphocytic leukemia

Susan L. Slager, Ph.D., is researching chronic lymphocytic leukemia (CLL), a cancer of the blood. She has requested samples from 824 Biobank participants without a history of any type of blood cancer to compare with samples from patients who have CLL whom she has recruited through a separate study. She is researching the genetics of CLL to better understand genomic variants that have a biological role in risk factors.

Association of genetic variation with metformin treatment response in breast and prostate cancer

Liewei Wang, M.D., Ph.D., and Jyotishman Pathak, Ph.D., are researching treatment response of breast and prostate cancer. They have requested questionnaire and clinical data from Biobank participants.

Metformin, a medication used to manage type II diabetes, is associated with decreased cancer incidence, and many ongoing clinical trials are designed to test the effect of the medication on cancer treatment. However, like many other cancer therapies, response to treatment varies. Genetics are one of the factors contributing to the variation in response. Dr. Wang's and Dr. Pathak's goal is to understand the genetics and role of metformin in the prevention and treatment of breast and prostate cancer.

Renal cell cancer

Alexander S. Parker, Ph.D., is researching renal cell carcinoma, a type of kidney cancer. He has requested samples and data from 1,000 Biobank participants who report no history of cancer to compare with patients with kidney cancer whom he has recruited from a separate study.

Dr. Parker's goal is to examine the molecular causes that link smoking, obesity and other risk factors to renal cell cancer development. This study has the potential to enhance knowledge of causes for renal cell cancer and should help inform new prevention and treatment strategies.

Chronic lymphocytic leukemia

Asish K. Ghosh, Ph.D., is researching the relationship of microvesicles to chronic lymphocytic leukemia (CLL) development. Microvesicles come from parts of the cell that make up different tissues in the body. Once formed, these vesicles can be shed into the bloodstream. There appear to be elevated levels of microvesicles in patients with CLL.

Therefore, Dr. Ghosh will study 100 healthy Biobank participants who have no known history of chronic disease to compare with a population of patients with CLL who have been recruited through a separate study. He hopes to learn more about the association of microvesicles in relation to CLL to see if these may be predictors of disease or play a role in therapy in the future.

Hypothyroidism and cholangiocarcinoma

Lewis R. Roberts, M.B., Ch.B., Ph.D., is researching whether low levels of thyroid hormones (hypothyroidism) are linked to a person's risk of developing cholangiocarcinoma, a specific type of liver cancer. He has asked to review medical information on 600 Biobank participants without a history of any cancer to compare with patients — recruited through a separate study — with cholangiocarcinoma.

Dr. Roberts will review lab results and imaging studies that may help to determine how common hypothyroidism and liver disease may be in individuals without liver cancer. Through this study, Dr. Roberts hopes to determine whether hypothyroidism may be a risk factor for the development of cholangiocarcinoma.

Cholangiocarcinoma

Lewis R. Roberts, M.B., Ch.B., Ph.D., has submitted a second request to the Biobank about cholangiocarcinoma. In this second project, he's requested samples from 400 Biobank participants without a history of any type of cancer to compare with patients, recruited through another study, who have cholangiocarcinoma.

Dr. Roberts is researching whether there are genetic variants that might predict which individuals are at risk of developing cholangiocarcinoma.

Kidney cancer

Eugene D. Kwon, M.D., is researching immune responses to kidney (renal) cancer. He has requested samples from 172 Biobank participants without a history of any type of cancer or known immune disorder. He will compare this group with patients — recruited through a separate study — who have kidney cancer.

Dr. Kwon is studying a particular immune marker to determine whether this marker can be detected in the blood of patients with and without kidney cancer. His goal is to better understand if this specific marker is detectable in both populations and whether it might be used in the future to help determine the prognosis of kidney cancer in affected individuals.

Multiple myeloma

Celine M. Vachon, Ph.D., is studying the genetics of multiple myeloma. She has requested samples from 1,000 Biobank participants without a history of multiple myeloma. Dr. Vachon will genotype these samples for a certain genetic variation and compare the results with those from patients from a separate study that have this disease.

She is attempting to identify specific DNA sequences and genes that increase a person's risk of developing multiple myeloma. Her goal is to better understand the origin of this cancer.

Glioma

Daniel Honore Lachance, M.D., Robert B. Jenkins, M.D., Ph.D., and colleagues are studying the genetics of glioma, one type of brain cancer. They have requested samples from 500 Biobank participants without a history of glioma and will compare test results from these samples with those from patients newly diagnosed with glioma.

They are attempting to identify specific genes or DNA sequences that predispose individuals to the development of this particular form of brain cancer. Their goal is to understand the role of genetic susceptibility among patients with glioma who do not have a family history of this disease.

Chronic lymphocytic leukemia

Susan L. Slager, Ph.D., is researching genetic risk factors for chronic lymphocytic leukemia (CLL). She has requested samples from 500 Biobank participants without a history of CLL to compare with patients — recruited through a separate study — who have had CLL. She is looking to confirm subtle changes in the DNA sequence that she has identified in previous studies. The changes may prove to be risk factors for developing CLL.

Breast cancer

Fergus J. Couch, Ph.D., is researching genetic risk factors for breast cancer. He has requested samples from 1,000 Biobank participants without a history of breast cancer to compare with patients, recruited through a separate study, who have had breast cancer.

Dr. Couch is looking for subtle changes in the DNA sequence that might prove to increase breast cancer risk. He is also working to identify genes other than those currently known (BRCA1 and BRCA2) that may increase a person's risk of developing breast cancer.

Colon cancer

Lisa A. Boardman, M.D., is studying a possible risk factor for colon cancer. She has requested samples from 500 Biobank participants without a history of colon cancer to compare with patients — recruited through a separate study — who have had colon cancer. She is studying whether telomere length is correlated to colon cancer risk.

Telomeres are located at the end of chromosomes and are known to shorten with age. Chromosomes are the structures in which genes (DNA) are packaged; humans have 46 total chromosomes and inherit half from each parent.

Dr. Boardman is also trying to determine if the genes that are involved in telomere shortening over one's lifetime might also play a role in a person's risk of colon cancer.

Familial pancreatic cancer genes in minority patients

Robert R. McWilliams, M.D., is researching genes proved to cause elevated risk of pancreatic cancer in some families. There is very little known about the frequency of gene changes (mutations) in certain genes in minority populations or the meaning of these gene changes in such populations.

Therefore, Dr. McWilliams has requested up to 100 samples from Biobank participants to add to the group of individuals whom he has recruited through a separate study. He is trying to determine if mutations in certain genes are more common in specific ethnicities and whether this plays a role in cancer development.

Lymphoma biomarkers

Andrew L. Feldman, M.D., is researching new biomarkers and possible targets for therapy for T-cell lymphoma. He has requested samples from 50 Biobank participants without a history of any type of cancer to compare with patients with lymphoma whom he has recruited through a separate study.

His goal is to identify new biomarkers that might help with the detection of T-cell lymphoma as well as identify potential targets for therapy for this cancer through new technologies.

Genetic variants and prostate cancer

Stephen N. Thibodeau, Ph.D., is researching a new genetic variation that was recently reported to increase the risk of hereditary prostate cancer. Dr. Thibodeau has requested samples from all male Biobank participants to determine how common this genetic variation may be.

Learning how common or uncommon this variation is in men will help researchers better understand its importance for men with prostate cancer and evaluate the risk this particular genetic variation may pose for the development of prostate cancer.

Genetic association in endometrial cancer

Boris J. Winterhoff, M.D., and Sean C. Dowdy, M.D., are researching genetic variants that may be associated with the development of endometrial cancer. They have requested samples from 300 Biobank participants without a history of endometrial cancer. The researchers can compare these samples to patients with endometrial cancer who have already been recruited through a separate study.

Drs. Winterhoff and Dowdy are trying to determine whether certain genetic variations increase the risk of endometrial cancer. This study may lead to better diagnostic and screening tools and, ultimately, longer patient survival.

Chronic obstructive pulmonary disease and lung cancer

Ping Yang, M.D., Ph.D., is researching lung cancer and chronic obstructive pulmonary disease (COPD). She has requested samples from 1,720 Biobank participants who do not have lung cancer. Dr. Yang will compare the genetics of these individuals with individuals who have COPD, lung cancer or both whom she has recruited through a separate study.

She is trying to identify the genetic changes that may contribute to the development or risk of development of COPD and lung cancer so that this information could be used for at-risk patients in the future.