Neoplasms

Blood and Lymph Conditions

All Conditions

Symptoms and General Pathology

Rare Diseases

Leukemia

Leukemia, Myeloid

Leukemia, Myeloid, Acute

Genetic Predisposition to Disease

Disease Susceptibility

Neoplasms by Histologic Type

Hematologic Diseases

Myeloid Leukemia

Acute Myeloid Leukemia

Acute Non Lymphoblastic Leukemia

Acute Graft Versus Host Disease

Interview lasting approximately 50 minutes.

Interview

Jian Gu, PHD

Little is known about the epidemiologic risk factors associated with the development of acute myelogenous leukemia (AML), and less is known about the role that genetic susceptibility plays in the development of AML. We propose to conduct a population-based study to investigate genetic susceptibility in adult AML patients, both de novo and treatment-related in a well-defined geographical area. Using a case-control design, we will prospectively enroll 400 patients from Texas and 800 healthy controls. Controls will be recruited using random digit dialing, and will be matched to the cases by age, gender, and ethnicity. Epidemiological and demographic information will be obtained through personal interviews, and will be integrated with clinical information, cytogenetic data, and genotypic markers. Blood specimens will be collected on all participants, who will be genotyped for markers associated with activation and detoxification of chemical carcinogens, including chemotherapy drugs. Polymorphisms in genes such as cytochrome p450 (CYP2E1), glutathione S-transferases (GSTT1, GSTM1, GSTP1), epoxide hydrolase (HYL1), NADPH-quinone oxidoreductase (NQO1), and myeloperoxidase (MPO) will be analyzed.

This study will provide insight into the role that these susceptibility markers, along with clinical epidemiological, and cytogenetic factors, play in the identification of people at risk of developing AML. Understanding how genetic predisposition and exogenous exposures interact to determine AML susceptibility will allow the development of prevention strategies in the future.

INFORMED CONSENTS FOR AML PATIENTS:

For this study, participant will be asked to complete a personal interview. During the interview, participant will be asked questions about participant's demographics (age, sex, etc.), any chemicals participant may have been exposed to, participant's medical history, family history of cancer, participant's diet, and participant's smoking and alcohol use histories. It should take around 50 minutes to complete the interview.

Participant will also have around 1 tablespoon of blood drawn for special tests. These tests will look for any biologic factors associated with AML.

The interview and the blood draw may be done during a regularly scheduled visit to M. D. Anderson, or may be scheduled at the time and place of participant's convenience.

Participant may be contacted at home by phone so that researchers can collect information about any changes in participant's health status.

This is an investigational study. Up to 1,200 participants will take part in this study.

INFORMED CONSENT FOR CONTROL SUBJECTS:

For this study, participant will be asked to complete a personal interview. During the interview, participant will be asked questions about participant's demographics (age, sex, etc.), any chemicals participant may have been exposed to, participant's medical history, family history of cancer, participant's diet, and participant's smoking and alcohol use histories. It should take around 50 minutes to complete the interview.

Participant will also have around 1 tablespoon of blood drawn for special tests. These tests will look for any biologic factors associated with AML. The interview and blood draw will be scheduled at the time and place of participant's convenience.

This is an investigational study. Up to 1,200 participants will take part in this study.

Blood sample collection to look for any biologic factors associated with AML.

Molecular Epidemiology of Acute Myelogenous Leukemia

National Cancer Institute (NCI)

M.D. Anderson Cancer Center

Gland and Hormone Related Diseases

Thyroid Neoplasms

Thyroid Diseases

Endocrine System Diseases

Endocrine Gland Neoplasms

Head and Neck Neoplasms

Disease Attributes

Monia Zidane, MD

Nadia Haddy, PhD

Françoise Terrier

Florent de Vathaire, PhD

Case control on thyroid cancer occuring in a cohort of 7300 subjects treated during their childhood, mostly by radiotherapy, for a skin Angioma at Gustave Roussy, Villejuif France between 1947 and 1973.

This case control study, which is included in a larger european project, aims to investigate the DNA variant interacting with the risk of radiation induced thyroid cancer after irradiation.

The sutdy is planed to include about 30 cases and 30 controls. Matching criteria are date of birth, gender, and age at irradiation.

Genetic Susceptibility to Radiation Induced Thyroid Cancer

Number of differentiated thyroid carcinoma occuring in a cohort of subjects treated for a skin hemangioma during the follow-up

Institut National de la Santé Et de la Recherche Médicale, France

Skin and Connective Tissue Diseases

Breast Neoplasms

Breast Diseases

Skin Diseases

Zhen Hu, MD

This is a community-based prospective study and the research object is breast cancer patients. It is planned to take the community as the unit to inform and collect the breast cancer patients who voluntarily participate to carry out the detection of BRCA1, BRCA2, PTEN, CHEK2 and PALB2 genes through the community health service center.

This is a population-based, prospective, cohort study which has been ongoing in 3 provinces of eastern China since 2019. Up to 5000 breast cancer survivors will conduct BRCA1, BRCA2, PTEN, CHEK2, and PALB2 genetic susceptibility genes testing, fill in clinical and genetic information forms, and collect family history. Mutation rate of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population will be measured. Logistic regression will be performed to establish a prediction model for the probability of BRCA1/2 and other gene mutations. Kin-Cohort method will be used to calculate the penetrance of breast cancer and other common malignancies in BRCA1/2 and other genetic mutation carriers.

ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies

Screening of Genetic Susceptibility Genes for Breast Cancer Patients and Establishment of High-risk Populations in Chinese Communities

The frequency of pathogenic or likely pathogenic variants and 95% confidence intervals of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population will be measured. After stratifying according to the different clinical characteristics of the patients, chi-square tests will be use to compare the mutation rates of BRCA1/2 gene in different subgroups.

Logistic regression will be performed to establish a prediction model for the probability of pathogenic or likely pathogenic variants of BRCA1/2 and other genes. Candidate predictors included age, race or ethnic group, the mean number of tumor in a family etc. Missing data were imputed using multiple imputation by chained equations if needed. Model validation is based on k-fold cross validation approach. Model calibration and discrimination were evaluated using HL test and AUC, respectively. ORs and corresponding 95% CI will report.

Kin-Cohort method will be used to calculate the penetrance of breast cancer and other common malignancies in BRCA1/2 and other genetic mutation carriers.

Fudan University

Professor

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Urinary Bladder Neoplasms

Urologic Neoplasms

Urogenital Neoplasms

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Urinary Bladder Diseases

Urologic Diseases

Male Urogenital Diseases

Debra Silverman, D.Sc.

The incidence rate of bladder cancer in the Barcelona area of Spain is almost identical to that of the U.S. Cigarette smoking has been identified as the most significant risk factor for bladder cancer, followed by occupational exposures to chemicals such as aromatic amines and their derivatives, diesel exhaust, oil mist, pesticides, and polynuclear aromatic hydrocarbons. A variety of non-occupational exposures have been suggested as potential risk factors as well, including smoking black vs. blond tobacco, dietary factors, certain medications and medical conditions, chlorination by-products in drinking water, and fluid intake. Various genetic polymorphisms also appear to affect bladder cancer risk. Research is needed to further explore hypotheses generated by previous etiologic studies of bladder cancer. An on-going study of bladder cancer survival by the Institut Municipal d'Investigacio Medica in Spain provides an excellent opportunity for NCI to perform such research. NCI will build upon the ongoing study by funding an interdisciplinary case-control component to evaluate bladder cancer risk in relation to various external factors (e.g., occupational and environmental exposure) and host factors (e.g., genetic susceptibility markers, and early effect markers). This hospital-based case-control study will involve personal interviews using a state-of-the-art, computer assisted technique, and collection of blood and toenail samples from participants.

The incidence rate of bladder cancer in the Barcelona area of Spain is almost identical to that of the U.S. Cigarette smoking has been identified as the most significant risk factor for bladder cancer, followed by occupational exposures to chemicals such as aromatic amines and their derivatives, diesel exhaust, oil mist, pesticides, and polynuclear aromatic hydrocarbons. A variety of non-occupational exposures have been suggested as potential risk factors as well, including smoking black vs. blond tobacco, dietary factors, certain medications and medical conditions, chlorination by-products in drinking water, and fluid intake. Various genetic polymorphisms also appear to affect bladder cancer risk. Research is needed to further explore hypotheses generated by previous etiologic studies of bladder cancer. An ongoing study of bladder cancer survival by the Institut Municipal d'Investigacio Medica in Spain provides an excellent opportunity for NCI to perform such research. NCI will build upon the ongoing study by funding an interdisciplinary case-control component to evaluate bladder cancer risk in relation to various external factors (e.g., occupational and environmental exposure) and host factors (e.g., genetic susceptibility marker, and early effect markers). This hospital-based case-control study will involve personal interviews using a state-of-the-art, computer-assisted technique, and collection of blood and toenail samples from participants.

Interdisciplinary Case-Control Study of Bladder Cancer in Spain

Digestive System Diseases

Colorectal Neoplasms

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Rectal Diseases

Fangqi Liu, M.D. Ph.D.

Fangqi Liu, M.D. Ph.D

This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.

In this study, gene mutation profiling was performed on primary tissue samples from colorectal cancer patients who met relevant clinical screening criteria, unearthing suspected germline pathogenic mutations. At the same time, germline mutation detection was performed on peripheral blood leukocytes of patients, and the consistency between suspected germline mutations in tumor somatic mutation detection and control leukocytes was compared. Establishing the feasibility of tumor somatic mutation-based detection to guide genetic susceptibility screening.Pedigree verification will be carried out for blood relatives of patients with germline mutations which have been identified for colorectal cancer.Through the tumor somatic and germline gene mutation profiles of Chinese hereditary colorectal cancer patients, it reveals the molecular characteristics of hereditary colorectal cancer in Asian populations and provides molecular-level evidence for possible subsequent clinical diagnosis and treatment.

Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.

An Exploratory Study of Next-generation Sequencing in Colorectal Cancer Somatic Cells to Guide Screening for Genetic Susceptibility Gene Mutations.

Assessing the sensitivity, specificity, positive predictive value, and negative predictive value of genetic susceptibility gene mutations screening based on a targeted Next-generation sequencing panel.

Screening for leukocyte mutations in blood relatives of the hereditary colorectal cancer patients with germline mutations.Preliminary analysis of the distribution, clinical characteristics, molecular typing and prognosis of Chinese hereditary colorectal cancer patients and their families.

Gene map characteristics of tissue samples from colorectal cancer patients who meet the relevant clinical screening criteria and their correlations with clinical characteristics (age, gender, family history, etc.)

Melanoma

Skin Neoplasms

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms, Nerve Tissue

Nevus, Pigmented

Nevus

Nevi and Melanomas

Neuroendocrine Tumor

Neuroepithelioma

The control group comprises patients with a first primary melanoma diagnosed in a twelve-month period.

Cases are patients diagnosed with a second or higher order primary in a six-year period.

Exposures of interest will be measured by a self-administered personal residence, occupation and vacation calendar, a telephone interview, and by testing DNA from buccal cells and blood, when available. Standardization of diagnosis will be undertaken by review of tissue slides. Questionnaire data will be completed by interviewers. DNA will be obtained from each individual in the form of 4-6 buccal swabs

Questionnaire

Exposures of interest will be measured by a self-administered personal residence, occupation and vacation calendar, a telephone interview, and by testing DNA from buccal cells and blood, when available. Standardization of diagnosis will be undertaken by review of tissue slides. Questionnaire data will be completed by interviewers. DNA will be obtained from each individual in the form of 4-6 buccal swabs.

Arlene Orlow, PhD

The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one melanoma and to people who are similar but who have not developed melanoma.

People respond to the environment in different ways. Some may be born with genes that make them more likely to get this type of skin cancer. Each person has many ways to repair normal damage to their genes. Specific genes may affect the repair of sun damage. Other genes affect the way the skin itself reacts to the sun. We want to find out which genes have normal changes in them and lead to different responses to exposures, such as the sun. We also want to find out if sun habits are related to the way these genes work.

The purpose of this study is to better understand genetic susceptibility to melanoma and the interactions of specific polymorphisms with each other and with environmental factors.

To accomplish this, buccal swabs or blood specimens from patients with melanoma (either single primary or multiple primary) have been collected. Specimens will be prepared in the Epidemiology Laboratory at MSKCC. They will be analyzed at MSKCC for INK4A (and functional assays for DNA repair capacity when blood is available) and the melanocortin gene (MC1R), at the University of North Carolina for polymorphisms in DNA repair genes and immune function genes, at the University of Pennsylvania for polymorphisms in the melanocortin receptor gene (MC1R) and immune function genes, and at the University of California (Irvine) for polymorphisms in metabolizing genes (P450's and GST's). Samples will be banked at MSKCC and the University of New Mexico. In order to perform this study, subjects from population-based registries in the United States (New Jersey, North Carolina, Michigan, San Diego/Imperial Counties), Canada (Cancer Care Ontario, British Columbia), Italy (Turin), Australia (New South Wales, Tasmania), were interviewed, asked to provide blood or buccal swab samples and asked to provide permission to obtain and review slides of their primary melanoma. This study is now closed to accrual.

A Model for Genetic Susceptibility: Melanoma

University of New Mexico

University of North Carolina

University of Michigan

University of California, Irvine

New South Wales Cancer Control

University of Tasmania

Registro dei Tumori, Torino, Italy

British Columbia Cancer Agency

Cancer Care Ontario

University of Pennsylvania

Memorial Sloan Kettering Cancer Center

Patients diagnosed with superficial or muscle-invasive bladder cancer. Specimens, personal and follow-up telephone interviews will be collected and conducted.

Data collected by personal interview for Epidemiology and Nutrition Questionnaires, with personal and follow-up telephone interviews.

Interviews

Jian Gu, MD

Tao T Le, Program Director, Epidemiology

Jian Gu, PhD

This clinical research study will identify biologic and lifestyle factors which increase a person's risk of developing specific cancer. Researchers propose to conduct a case-control study examining interindividual differences in susceptibility to tobacco carcinogenesis as predictors of bladder cancer risk. We will measure susceptibility to tobacco carcinogenesis and this will include studies of the genetic modulation of carcinogen activation and detoxification and of chromosome sensitivity to tobacco mutagens.

Researchers propose to conduct a case-control study examining interindividual differences in susceptibility to tobacco carcinogenesis as predictors of bladder cancer risk. We will measure susceptibility to tobacco carcinogenesis and this will include studies of the genetic modulation of carcinogen activation and detoxification and of chromosome sensitivity to tobacco mutagens.

blood (about 40 cc or 8 teaspoons), urine

Genetic Susceptibility to Bladder Cancer

Genetic Susceptibility to Bladder Cancer: A Molecular Epidemiology Approach

Mutagen sensitivity as measured by quantifying the number of lymphocytic chromatid breaks and comet tail moments induced by in vitro exposure to bleomycin (a radiomimetic agent) and benzo\[a\]pyrene diol epoxide (BPDE, a tobacco carcinogen) in bladder cancer cases in comparison to data for controls

Infections

Immune System Diseases

Syndrome

Hematologic Neoplasms

Mycoses

Invasive Fungal Infections

Neutropenia

Candidiasis

Immune Reconstitution Inflammatory Syndrome

Communicable Diseases

Agranulocytosis

Leukopenia

Cytopenia

Leukocyte Disorders

Bacterial Infections

Bacterial Infections and Mycoses

Chronic Graft Versus Host Disease

Granulocytopenia

Systemic Candidiasis

All Drugs and Chemicals

Fluorodeoxyglucose F18

Radiopharmaceuticals

to determine whether F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) is useful for the therapy strategy of hepatosplenic candidiasis.

18F-FDG PET Scan

The purpose of this study is to determine whether F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) is useful for the therapy strategy of hepatosplenic candidiasis.

Chronic disseminated candidiasis, often referred to as hepatosplenic candidiasis (HSC), is an infection due to Candida spp. that mainly involves the liver and spleen. HSC occurs mostly in patients with profound and prolonged neutropenia, which is more often seen in patients with hematologic malignancies. Despite an appropriate antifungal prophylaxis, the incidence of HSC in France might be closed to 5% in patients suffering from acute leukemia. Early and adequate diagnosis and treatment of HSC are crucial, as treatment delays can negatively affect the prognosis of the underlying condition. Current guidelines recommend a 6-month duration treatment. Prolonged treatments up to 6 months are frequent, leading to antifungal toxicity and cost increase. Preliminary study by our team has already assessed F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) as a diagnostic tool for HSC. 18F-FDG PET scan could be helpful in the diagnosis, follow-up and therapy strategy of HSC, helping to stop antifungal treatment. Other molecular, immunological and serological tools have to be developed in order to avoid hepatic biopsies. Actually, mycological evidence of infection is found in only 20% of the cases. The pathogenesis of HSC is also not well understood, but it is believed that it may be due to an unbalanced adaptive immune response that leads to an exacerbated inflammatory reaction, resulting in an Immune Reconstitution Inflammatory Syndrome (IRIS). In that context, a better understanding of the disease pathophysiology and of the potential genetic susceptibility could have an impact on therapy strategy. For example, new approaches such as the use of adjuvant high-dose corticosteroids have been shown beneficial. This study is the first step to improve HSC diagnosis and therapy strategy.

Hepatosplenic CANdidiasis : PETscan and Immune Response Analysis

Multicenter Prospective Pilot Study Investigating Pathophysiology, Diagnostic and Therapeutic Strategies of Hepatosplenic Candidiasis

Clinical assessment (no fever) and PET scan assessment (intensity of liver and/or spleen lesions)

Comparison between Day 0 and Month 3 exams

Measurement of beta-1,3-D-glucans, mannan/anti-mannan, anti-Saccharomyces cerevisiae antibodies in comparison with controls.

Assessment of a new real-time PCR on serum and hepatic tissue

Measurement of cytokines and lymphocytes populations on serum and hepatic tissue in comparison with controls

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Molecular Epidemiology of Acute Myelogenous Leukemia	NCT00502983	Leukemia	Interview	18 Years -	M.D. Anderson Cancer Center
Genetic Susceptibility to Radiation Induced Thyroid Cancer	NCT04139096	Thyroid Neoplas... Genetic Suscept... Radiation Expos...		18 Years -	Institut National de la Santé Et de la Recherche Médicale, France
Genetic Susceptibility to Radiation Induced Thyroid Cancer	NCT04139096	Thyroid Neoplas... Genetic Suscept... Radiation Expos...		18 Years -	Institut National de la Santé Et de la Recherche Médicale, France
ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies	NCT04265937	Breast Cancer Genetic Suscept...		-	Fudan University
Interdisciplinary Case-Control Study of Bladder Cancer in Spain	NCT00341861	Bladder Cancer		21 Years - 80 Years	National Institutes of Health Clinical Center (CC)
Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.	NCT04280666	Hereditary Colo...		18 Years -	Fudan University
A Model for Genetic Susceptibility: Melanoma	NCT00591500	Melanoma Skin Cancer	Questionnaire Questionnaire	-	Memorial Sloan Kettering Cancer Center
Genetic Susceptibility to Bladder Cancer	NCT00848289	Bladder Cancer	Interviews	-	M.D. Anderson Cancer Center
Interdisciplinary Case-Control Study of Bladder Cancer in Spain	NCT00341861	Bladder Cancer		21 Years - 80 Years	National Institutes of Health Clinical Center (CC)
Hepatosplenic CANdidiasis : PETscan and Immune Response Analysis	NCT01916057	Invasive Fungal... Chronic Dissemi... Hematological M... Hematopoietic S... Neutropenia	18F-FDG PET Sca...	18 Years -	Assistance Publique - Hôpitaux de Paris
Genetic Susceptibility to Bladder Cancer	NCT00848289	Bladder Cancer	Interviews	-	M.D. Anderson Cancer Center

Spots Global Cancer Trial Database for genetic susceptibility