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Young-onset colorectal cancer
In the past decades the incidence of colorectal cancer (CRC) in people under the age of 50
years has increased, which is referred to as early-onset CRC or young-onset CRC (YO …
years has increased, which is referred to as early-onset CRC or young-onset CRC (YO …
Genome-wide association studies of cancer: current insights and future perspectives
Genome-wide association studies (GWAS) provide an agnostic approach for investigating
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …
the genetic basis of complex diseases. In oncology, GWAS of nearly all common …
[HTML][HTML] Delphi initiative for early-onset colorectal cancer (DIRECt) international management guidelines
Background & Aims Patients with early-onset colorectal cancer (eoCRC) are managed
according to guidelines that are not age-specific. A multidisciplinary international group …
according to guidelines that are not age-specific. A multidisciplinary international group …
Prevalence and penetrance of major genes and polygenes for colorectal cancer
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …
[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
Germline mutations predisposing to melanoma
A Toussi, N Mans, J Welborn… - Journal of cutaneous …, 2020 - Wiley Online Library
Nearly 15% of melanomas occur in patients with a family history and a subset of these
patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations …
patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations …
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes
The current understanding of familial colorectal cancer was limited to descriptions of affected
pedigrees until the early 1990s. A series of landscape‐altering discoveries revealed that …
pedigrees until the early 1990s. A series of landscape‐altering discoveries revealed that …
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis
and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals …
and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals …
Homologous recombination deficiency in ovarian, breast, colorectal, pancreatic, non-small cell lung and prostate cancers, and the mechanisms of resistance to PARP …
Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …
Long telomeres and cancer risk: the price of cellular immortality
The distribution of telomere length in humans is broad, but it has finite upper and lower
boundaries. Growing evidence shows that there are disease processes that are caused by …
boundaries. Growing evidence shows that there are disease processes that are caused by …