The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation and human disease.

Integrative analysis of 111 reference human epigenomes

Although there has been considerable progress in reducing cancer incidence in the United States, the number of cancer survivors continues to increase due to the aging and growth of the population and improvements in survival rates. As a result, it is increasingly important to understand the unique medical and psychosocial needs of survivors and be aware of resources that can assist patients, caregivers, and health care providers in navigating the various phases of cancer survivorship. To highlight the challenges and opportunities to serve these survivors, the American Cancer Society and the National Cancer Institute estimated the prevalence of cancer survivors on January 1, 2012 and January 1, 2022, by cancer site. Data from Surveillance, Epidemiology, and End Results (SEER) registries were used to describe median age and stage at diagnosis and survival; data from the National Cancer Data Base and the SEER-Medicare Database were used to describe patterns of cancer treatment. An estimated 13.7 million Americans with a history of cancer were alive on January 1, 2012, and by January 1, 2022, that number will increase to nearly 18 million. The 3 most prevalent cancers among males are prostate (43%), colorectal (9%), and melanoma of the skin (7%), and those among females are breast (41%), uterine corpus (8%), and colorectal (8%). This article summarizes common cancer treatments, survival rates, and posttreatment concerns and introduces the new National Cancer Survivorship Resource Center, which has engaged more than 100 volunteer survivorship experts nationwide to develop tools for cancer survivors, caregivers, health care professionals, advocates, and policy makers.

https://onlinelibrary.wiley.com/doi/pdf/10.3322/caac.21149

Cancer treatment and survivorship statistics, 2012

Infectious Diseases Society of America.

https://eprints.ncl.ac.uk/file_store/production/187503/F3CBDFF1-CE60-43F7-AF30-EA88A642F2F4.pdf

Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study

Estimated number of new cancer cases for 2010, excluding basal and squamous cell skin cancers and in situ carcinomas except urinary bladder. Note: State estimates are offered as a rough guide and should be interpreted with caution. State estimates may not add to US total due to rounding.

/pdf/cancer-facts-figures-2004-1oij6xmbu2.pdf

Cancer Facts & Figures 2004

BACKGROUND We modeled height after craniospinal irradiation (CSI) in pediatric patients with central nervous system (CNS) embryonal tumors to identify factors that impair stature. PROCEDURE During 1996-2012, 212 pediatric patients (131 male) with CNS embryonal tumors received postoperative CSI: 23.4 Gy (n = 147) or ≥36 Gy (n = 65), similar postirradiation chemotherapy, and were followed for at least 5 years without tumor progression or other event. The group was further characterized by age at CSI and hormone-replacement therapy received. Models were developed to identify factors associated with growth impairment and estimate final height. RESULTS With median follow up of 10.2 years (range 5.0-20.4 years), the mean final height z-scores at 18 years of age, compared to United States standards, were -1.3 for female and -1.5 for male survivors. Younger age at the time of CSI, higher CSI dose, and female sex were associated with height impairment. Factors associated with higher growth rates before 15 years of age were older age at CSI, male sex, CSI dose < 36 Gy, replacement therapy for growth hormone (GH) and central adrenal insufficiency, and white race. Growth after age 15 in male survivors was associated with treatment of gonadotropin deficiency. Linear mixed-effects models were developed using clinical factors to estimate final height, demonstrate the unique growth curve of this cohort, and interactions between clinical variable and radiation dose. CONCLUSIONS CSI significantly impaired height at current doses used to treat standard- or high-risk CNS embryonal tumors. Measures to reduce the impact of CSI on height should be sought, with our models serving as benchmarks.

Height after photon craniospinal irradiation in pediatric patients treated for central nervous system embryonal tumors.

Two adolescent girls with acquired vaginal occlusion and resultant hematometracolpos are presented. Both are long-term survivors of childhood malignancies, who prior to multiagent chemotherapy and pelvic irradiation had normal uteri by imaging. Both were amenorrheic post therapy. Routine follow-up computed tomography (CT) scans to monitor their malignancies demonstrated unexpected cystic pelvic masses, subsequently diagnosed as hematometracolpos.

Vaginal occlusion induced by cancer therapy

Infection imaging of children and adolescents undergoing cancer therapy: A review of modalities and an organ system approach

/pdf/proceedings-of-the-3rd-alara-conference-2006-1rcwtsiiiz.pdf

Sue C. Kaste

Papers

Height after photon craniospinal irradiation in pediatric patients treated for central nervous system embryonal tumors.

Vaginal occlusion induced by cancer therapy

Infection imaging of children and adolescents undergoing cancer therapy: A review of modalities and an organ system approach

Proceedings of the 3rd ALARA Conference, 2006.

Serum Alanine Aminotransferase Elevations in Survivors of Childhood Cancer: A Report From the St. Jude Lifetime Cohort Study.