scholarly journals Cohort profile: the Spanish Early-onset Colorectal Cancer (SECOC) cohort: a multicentre cohort study on the molecular basis of colorectal cancer among young individuals in Spain

BMJ Open ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. e055409
Author(s):  
Jose Perea ◽  
Marc Marti ◽  
Eloy Espin ◽  
Sergio Hernandez-Villafranca ◽  
Pilar Orihuela ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Prospective Cohort ◽  
Molecular Basis ◽  
Familial Cancer ◽  
Related Factors ◽  
Rectosigmoid Junction ◽  
Cancer History ◽  
Biospecimen Collection ◽  
Early Onset Colorectal Cancer

PurposeThe Spanish Early-onset Colorectal Cancer (SECOC) study is a multicentre prospective cohort established in Spain to investigate the molecular basis of early-onset colorectal cancer (EOCRC), including metabolic alterations.Participants220 patients with EOCRC have been enrolled since January 2019 through 18 centres across Spain. Individual-level data were collected by questionnaire, including lifestyle and other colorectal cancer-related factors. Medical record review was performed to capture clinical, histopathological and familial cancer history data. Biospecimen collection (blood, stool, tissue) at diagnosis and at various time points across treatment, as applicable, is also completed.Findings to dateParticipants had a median age of 44 years (range 14–49), and the majority are men (60%), with individuals age 40–49 years at EOCRC diagnosis being over-represented. Forty-three per cent of participants were diagnosed with a tumour in the rectosigmoid junction/rectum. Nearly two-thirds of EOCRC cases (64%) were diagnosed with advanced stage (III–IV) disease, and 28% of cases had no reported familial history of cancer.Future plansWe are actively recruiting and observing participants; we plan to administer follow-up questionnaires and perform additional biospecimen collection. This prospective cohort offers a unique, rich resource for research on EOCRC aetiologies and will contribute to larger international efforts to disentangle the rising disease burden.

scholarly journals The genetic and epigenetic landscape of early-onset colorectal cancer

2020 ◽  
Vol 9 (3) ◽  
pp. CRC23 ◽  
Author(s):  
C Richard Boland ◽  
Ajay Goel ◽  
Swati G Patel
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Familial Cancer ◽  
Genetic Alterations ◽  
Epigenetic Alterations ◽  
Epigenetic Landscape ◽  
Familial Cancer Syndromes ◽  
Epigenetic Signatures ◽  
Cancer Syndromes ◽  
Early Onset Colorectal Cancer

Colorectal cancer (CRC) in individuals under the age of 50 is a problem that is increasing in USA and around the world. In this review, we discuss the degree to which early-onset (EO)CRC may be due to unsuspected Lynch syndrome or other inherited germline variants that predispose to cancer, describe the known somatic genetic alterations in EO tumors and discuss alterations in DNA methylation. Approximately 20% of EOCRCs can be attributed to identifiable germline mutations in genes that cause familial cancer syndromes. A variety of other genetic/epigenetic alterations have also been reported. We conclude that this is a heterogeneous problem, that requires a comprehensive analysis of genetic/epigenetic signatures to better understand EOCRC. Various subsets of EOCRCs must be analyzed individually for clues regarding the etiologies and possible specific therapies for this disease.

Su1008 CLINICAL AND PATHOLOGIC CHARACTERISTICS OF EARLY ONSET COLORECTAL CANCER (EOCRC).

2020 ◽  
Vol 158 (6) ◽  
pp. S-496
Author(s):  
Arif A. Arif ◽  
Daljeet Chahal ◽  
Caroline Speers ◽  
Mary A. De Vera ◽  
Sharlene Gill ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Early Onset Colorectal Cancer

scholarly journals High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer

2021 ◽  
Author(s):  
Jeong Eun Kim ◽  
Jaeyong Choi ◽  
Chang-Ohk Sung ◽  
Yong Sang Hong ◽  
Sun Young Kim ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Large Scale ◽  
Late Onset ◽  
Age Groups ◽  
The Cancer Genome Atlas ◽  
Whole Genome ◽  
Genome Doubling ◽  
Whole Genome Doubling ◽  
Early Onset Colorectal Cancer

AbstractThe global incidence of early-onset colorectal cancer (EO-CRC) is rapidly rising. However, the reason for this rise in incidence as well as the genomic characteristics of EO-CRC remain largely unknown. We performed whole-exome sequencing in 47 cases of EO-CRC and targeted deep sequencing in 833 cases of CRC. Mutational profiles of EO-CRC were compared with previously published large-scale studies. EO-CRC and The Cancer Genome Atlas (TCGA) data were further investigated according to copy number profiles and mutation timing. We classified colorectal cancer into three subgroups: the hypermutated group consisted of mutations in POLE and mismatch repair genes; the whole-genome doubling group had early functional loss of TP53 that led to whole-genome doubling and focal oncogene amplification; the genome-stable group had mutations in APC and KRAS, similar to conventional colon cancer. Among non-hypermutated samples, whole-genome doubling was more prevalent in early-onset than in late-onset disease (54% vs 38%, Fisher’s exact P = 0.04). More than half of non-hypermutated EO-CRC cases involved early TP53 mutation and whole-genome doubling, which led to notable differences in mutation frequencies between age groups. Alternative carcinogenesis involving genomic instability via loss of TP53 may be related to the rise in EO-CRC.

scholarly journals Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3857
Author(s):  
Pilar Mur ◽  
Nuria Bonifaci ◽  
Anna Díez-Villanueva ◽  
Elisabet Munté ◽  
Maria Henar Alonso ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Risk Score ◽  
Early Onset ◽  
Low Risk ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Pathogenic Variants ◽  
Predisposing Genes ◽  
The Mean ◽  
Early Onset Colorectal Cancer

A large proportion of familial and/or early-onset cancer patients do not carry pathogenic variants in known cancer predisposing genes. We aimed to assess the contribution of previously validated low-risk colorectal cancer (CRC) alleles to familial/early-onset CRC (fCRC) and to serrated polyposis. We estimated the association of CRC with a 92-variant-based weighted polygenic risk score (wPRS) using 417 fCRC patients, 80 serrated polyposis patients, 1077 hospital-based incident CRC patients, and 1642 controls. The mean wPRS was significantly higher in fCRC than in controls or sporadic CRC patients. fCRC patients in the highest (20th) wPRS quantile were at four-fold greater CRC risk than those in the middle quantile (10th). Compared to low-wPRS fCRC, a higher number of high-wPRS fCRC patients had developed multiple primary CRCs, had CRC family history, and were diagnosed at age ≥50. No association with wPRS was observed for serrated polyposis. In conclusion, a relevant proportion of mismatch repair (MMR)-proficient fCRC cases might be explained by the accumulation of low-risk CRC alleles. Validation in independent cohorts and development of predictive models that include polygenic risk score (PRS) data and other CRC predisposing factors will determine the implementation of PRS into genetic testing and counselling in familial and early-onset CRC.

Abstract 838: Sugar-sweetened beverage intake and risk of early-onset colorectal cancer

2021 ◽  
Author(s):  
Jinhee Hur ◽  
Ebunoluwa Otegbeye ◽  
Hee-Kyung Joh ◽  
Katharina Nimptsch ◽  
Kimmie Ng ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Sugar Sweetened Beverage ◽  
Sweetened Beverage ◽  
Early Onset Colorectal Cancer

Alarming recent rises in early‐onset colorectal cancer

Cancer ◽  
2021 ◽  
Author(s):  
Caroline A. Thompson ◽  
Talia Begi ◽  
Humberto Parada
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Early Onset Colorectal Cancer
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