A5089073198- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Testicular diseases and treatments
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cutaneous Melanoma Detection and Management
- Sexual Differentiation and Disorders
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- PARP inhibition in cancer therapy
- Genetics, Bioinformatics, and Biomedical Research
- Genetic Neurodegenerative Diseases
- Family Support in Illness
- Molecular Biology Techniques and Applications
- Substance Abuse Treatment and Outcomes
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Lymphoma Diagnosis and Treatment
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Chromatin Dynamics
National Cancer Institute
2015-2024
Division of Cancer Epidemiology and Genetics
2015-2024
National Institutes of Health
2014-2024
Columbia University Irving Medical Center
2024
Cancer Genetics (United States)
2010-2022
University of Pennsylvania
1983-2022
Cancer Institute (WIA)
1979-2022
United States Department of Health and Human Services
2012-2019
Wellcome Sanger Institute
2017
QIMR Berghofer Medical Research Institute
2010-2015
Abstract Objective Etanercept and infliximab are tumor necrosis factor (TNF) antagonists that have been recently approved for the treatment of rheumatoid arthritis (RA) Crohn's disease (CD). This study was undertaken to investigate occurrence lymphoproliferative disorders in patients treated with these agents. Methods Relevant data MedWatch postmarket adverse event surveillance system run by US Food Drug Administration were reviewed. Results We identified 26 cases following etanercept (18...
The risk of hereditary cutaneous malignant melanoma was evaluated in 401 members 14 families with an autosomal dominant form melanoma. We documented 127 primary melanomas 69 family members, including 39 new diagnosed 22 study participants from the time first examination through a maximum 8 years follow-up. newly occurred only dysplastic nevi, known precursor familial Of 77 patients nevus syndrome without prior melanomas, 4 developed their during prospective follow-up, as compared 0.03 cases...
Clinical photographs of 79 prospectively studied cases non-familial cutaneous malignant melanoma were reviewed; special attention was directed to the distribution pattern coexistent melanocytic lesions. A group 15 patients had moles on covered buttock area. Seven these large clinically atypical nevi, and biopsies nevi showed severe dysplasia. Residual elements dysplasia identified in five primary melanomas this patients. It is suggested that represent a distinctive syndrome, Dysplastic Nevus...
THE incidence of cutaneous malignant melanoma is rising rapidly throughout the world.1 The most current data from National Cancer Institute's Surveillance Epidemiology and End Results (SEER) sy...
Summary Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond‐Blackfan (DBA), and Shwachman‐Diamond syndrome (SDS) comprise major inherited bone marrow failure syndromes (IBMFS). Adverse events include severe (BMF), myelodysplastic (MDS), acute myeloid leukaemia (AML), solid tumours (ST). The natural history of FA is well characterised; hazard rates in the other have not yet been quantified. An open cohort was established at National Cancer Institute (NCI) 2002. Patients enrolled prior...
The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...
Abstract Breast and ovarian cancer patients harboring BRCA1/2 germline mutations have clinically benefitted from therapy with PARP inhibitor (PARPi) or platinum compounds, but acquired resistance limits clinical impact. In this study, we investigated the impact of on BRCA1 isoform expression therapeutic response. Cancer cell lines tumors in exon 11 express a BRCA1-Δ11q splice variant lacking majority 11. The introduction frameshift to resulted nonsense-mediated mRNA decay full-length, not...
Somatic mutations affecting components of the Ras-MAPK pathway are a common feature cancer, whereas germline Ras cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These ‘RASopathies’ also represent cancer-prone syndromes, but quantitative cancer risks remain unknown. We investigated occurrence childhood benign malignant tumours central nervous system in group 735 individuals with signalling genes by matching their information German Childhood...
To provide precise age-specific risk estimates of cancers other than female breast and ovarian associated with pathogenic variants (PVs) in
We used molecular genetic techniques and multipoint linkage analyses to locate the gene responsible for cutaneous malignant melanoma-dysplastic nevus. evaluated 99 relatives 26 spouses in six families with a predisposition melanoma. Thirty-four family members had melanoma, 31 of these 34 also histologically confirmed dysplastic nevi. Twenty-four nevi alone. An analysis cosegregation melanoma–dysplastic nevus trait polymorphic DNA markers on short arm chromosome 1 demonstrated presence...
We evaluated the occurrence of acute nonlymphocytic leukemia (ANL) among 1399 women with ovarian cancer who were treated in five randomized clinical trials. Of women, 998 had been alkylating agents, and these, 12 cases ANL observed; expected number was 0.11. Ten patients received melphalan, two chlorambucil. not observed 401 surgery or radiation both, without agents. The excess risk that associated alkylating-agent therapy 5.8 per 1000 year, cumulative seven-year chemotherapy alone...
Acute nonlymphocytic leukemia is a recognized complication of combined chemotherapy and radiation treatment patients with Hodgkin's disease. Previous studies have suggested that the risk in these increases time after treatment. We analyzed occurrence second neoplasms among 192 disease who were followed for median over 15 years. originally planned to identify prospectively morphologic changes bone marrow precede development acute leukemia. All 63 consenting aspiration had normal morphology,...
We evaluated the risk of acute nonlymphocytic leukemia, myelodysplastic syndrome, and preleukemia in 3633 patients with gastrointestinal cancer who were treated nine randomized clinical trials. Among 2067 given semustine (methyl-CCNU) as adjuvant therapy, leukemic disorders developed 14, whereas only one disorder (acute leukemia) occurred among 1566 other therapies (relative = 12.4; 95 per cent confidence interval 1.7 to 250). The six-year cumulative mean (+/- S.E.) acquiring a after...