Targeted Cancer Screening in Average-Risk Individuals

Freedman, Andrew; Khoury, Muin J.

doi:10.1016/j.amepre.2015.04.030

Cited by 16 publications

(11 citation statements)

References 27 publications

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“…Recently, however, there has been a growing focus on the role of inherited variation in adult cancer, with a view towards next-generation risk assessment and prevention (53). Here, we have described a genome-wide analysis of germline-somatic interactions, based on the availability of germline genotypes and somatic phenotypes for most TCGA patients.…”

Section: Discussionmentioning

confidence: 99%

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

et al. 2017

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Recent studies have characterized the extensive somatic alterations that arise during cancer. However, the somatic evolution of a tumor may be significantly affected by inherited polymorphisms carried in the germline. Here, we analyze genomic data for 5954 tumors to reveal and systematically validate 412 genetic interactions between germline polymorphisms and major somatic events, including tumor formation in specific tissues and alteration of specific cancer genes. Among germline-somatic interactions, we find germline variants in RBFOX1 that increase incidence of SF3B1 somatic mutation by eight-fold via functional alterations in RNA splicing. Similarly, 19p13.3 variants are associated with a four-fold increased likelihood of somatic mutations in PTEN. In support of this association, we find that PTEN knock-down sensitizes the MTOR pathway to high expression of the 19p13.3 gene GNA11. Finally, we observe that stratifying patients by germline polymorphisms exposes distinct somatic mutation landscapes, implicating new cancer genes. This study creates a validated resource of inherited variants that govern where and how cancer develops, opening avenues for prevention research.

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Section: Discussionmentioning

confidence: 99%

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

et al. 2017

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“…To better target populations who will benefit from screening, the National Cancer Institute has launched a new precision-based cancer screening initiative. 75 With the aging of the population, it will be increasingly important to evaluate life expectancy-based screening by identifying women with sufficient life expectancies to benefit from screening, while minimizing harms associated with false-positive results and overdiagnosis among women who will not live long enough to benefit.…”

Section: Discussionmentioning

confidence: 99%

Optimal breast cancer screening strategies for older women: current perspectives

Braithwaite¹,

Demb²,

Henderson³

2016

CIA

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Breast cancer is a major cause of cancer-related deaths among older women, aged 65 years or older. Screening mammography has been shown to be effective in reducing breast cancer mortality in women aged 50–74 years but not among those aged 75 years or older. Given the large heterogeneity in comorbidity status and life expectancy among older women, controversy remains over screening mammography in this population. Diminished life expectancy with aging may decrease the potential screening benefit and increase the risk of harms. In this review, we summarize the evidence on screening mammography utilization, performance, and outcomes and highlight evidence gaps. Optimizing the screening strategy will involve separating older women who will benefit from screening from those who will not benefit by using information on comorbidity status and life expectancy. This review has identified areas related to screening mammography in older women that warrant additional research, including the need to evaluate emerging screening technologies, such as tomosynthesis among older women and precision cancer screening. In the absence of randomized controlled trials, the benefits and harms of continued screening mammography in older women need to be estimated using both population-based cohort data and simulation models.

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“…In vitro testing of siRNA against cervical cancer has yielded promising results, but the same issues that hampered the clinical development of ribozymes and antisense oligonucleotides are now posing problems for the siRNA field: target selection, specificity, and delivery. If these problems are resolved, a variety of new and effective cervical cancer treatments could be available [184][185][186][187][188][189][190][191][192][193][194].…”

Section: Specimen Adequacymentioning

confidence: 99%

Genetic Screening of Cervical Cancer

Comparetto¹,

Borruto²

2021

obm genet

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Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepted criteria. Cervical cancer represents a very relevant disease from the health and social perspective; around 528,000 new cases are diagnosed every year globally, of which, 85% are from developing countries, representing almost 12% of all cancers in females. Substantial reductions in the incidence of and mortality from cervical cancer have been observed after the introduction of prevention campaigns with the implementation of cervical screening programs through Papanicolaou (Pap) tests and, in particular, following the introduction of organized programs which guarantee a high level of screening coverage, as well as, the quality and continuity of diagnostic-therapeutic procedures. It is estimated that Pap smear screening every 3-5 years provides 80% protection against the onset of cancer. Advances in diagnostic techniques, particularly the development of easy-to-use molecular genetic tests, are replacing the use of the established Pap smear as a screening tool. This is possible owing to the discovery in 1975 that some cellular morphological changes (koilocytosis) were related to the presence of a Human Papillomavirus (HPV) infection. The HPV test is performed on a small sample of cells taken from the cervix, similar to the Pap test; however, it is not a morphological exam but a molecular biology exam that detects the presence of HPV by identifying its deoxyribonucleic acid (DNA) or messenger ribonucleic acid (mRNA). The results of numerous experimental studies have demonstrated a greater sensitivity of this test compared to the sensitivity of the traditional Pap test. However, the HPV test has a lower specificity due to two main factors: 1) The HPV test is based on the search for the types of viruses that have a greater oncogenic potential, and 2) It does not discriminate between transient infections and persistent and productive infections. The most widely used molecular tests are based on the search for HPV sequences and genotyping using molecular biology techniques, such as direct hybridization, qualitative polymerase chain reaction (PCR), and viral nucleotide sequencing.

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Targeted Cancer Screening in Average-Risk Individuals

Cited by 16 publications

References 27 publications

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

Optimal breast cancer screening strategies for older women: current perspectives

Genetic Screening of Cervical Cancer

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