NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018

Provenzale, Dawn; Gupta, Samir; Ahnen, Dennis J.; Markowitz, Arnold J.; Chung, Daniel C.; Mayer, Robert J.; Regenbogen, Scott E.; Blanco, Amie; Bray, Travis; Cooper, Gregory S.; Early, Dayna S.; Ford, James M.; Giardiello, Francis M.; Grady, William M.; Hall, Michael J.; Halverson, Amy L.; Hamilton, Stanley R.; Hampel, Heather; Klapman, Jason; Larson, David W.; Lazenby, Audrey J.; Llor, Xavier; Lynch, Patrick M.; Mikkelson, June; Ness, Reid M.; Slavin, Thomas P.; Sugandha, Shajanpeter; Weiss, Jennifer M.; Dwyer, Mary A.; Ogba, Ndiya

doi:10.6004/jnccn.2018.0067

Cited by 123 publications

(96 citation statements)

References 42 publications

(4 reference statements)

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“…2 Others recommend screening at 50 years of age, although the US Multi-Society Task Force on Colorectal Cancer recommends screening African American individuals at age 45 years of age owing to higher incidence, mortality, and earlier-onset disease. [3][4][5][6] The American Cancer Society decision incorporated modeling studies that used updated incidence and mortality data encompassing time periods of increasing EOCRC incidence rates; modeling compared life-years gained by initiating screening at 45 vs 50 years. [7][8][9][10] Aforementioned incidence analyses used EOCRC rates in defined age-group ranges (ie, 40-49 years) stratified over different time periods.…”

Section: Introductionmentioning

confidence: 99%

Trends in Incidence of Early-Onset Colorectal Cancer in the United States Among Those Approaching Screening Age

Abualkhair

Zhou

Ahnen³

et al. 2020

JAMA Netw Open

100

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IMPORTANCE Early-onset colorectal cancer incidence rates among patients aged 45 to 49 years have been considered much lower compared with the rates among patients aged 50 to 54 years, prompting debate about earlier screening benefits at 45 years. However, the observed incidence rates in the Surveillance, Epidemiology, and End Results (SEER) registries may underestimate colorectal cancer case burdens in those younger than 50 years compared with those older than 50 years because average-risk screening is generally not performed to detect preclinical cases of colorectal cancer. Finding steep incidence increases of invasive stage (beyond in situ) cases of colorectal cancer from age 49 to 50 years would be consistent with high rates of preexisting, undetected cancers in younger patients ultimately receiving a diagnosis of colorectal cancer after undergoing screening at 50 years.OBJECTIVE To assess the preclinical burden of colorectal cancer by analyzing its incidence in 1-year age increments, focusing on the transition between ages 49 and 50 years. DESIGN, SETTING, AND PARTICIPANTSData from the SEER 18 registries, representing 28% of the US population, were used to conduct a cross-sectional study of colorectal cancer incidence rates from January 1, 2000, to December 31, 2015, in 1-year age increments (ages 30-60 years) stratified by US region (South, West, Northeast, and Midwest), sex, race, disease stage, and tumor location. Statistical analysis was conducted from November 1, 2018, to December 15, 2019. MAIN OUTCOMES AND MEASURES Incidence rates of colorectal cancer. RESULTS A total of 170 434 cases of colorectal cancer were analyzed among 165 160 patients (92 247 men [55.9%]; mean [SD] age, 51.6 [6.7] years). Steep increases in the incidence of colorectal cancer in the SEER 18 registries were found from 49 to 50 years of age (46.1% increase: 34.9 [95% CI, 34.1-35.8] to 51.0 [95% CI, 50.0-52.1] per 100 000 population). Steep rate increases from 49 to 50 years of age were also seen in all US regions, men and women, white and black populations, and in colon and rectal cancers. The rate ratio incidence increase in the SEER 18 registries from 49 to 50 years of age (1.46 [95% CI, 1.42-1.51]) was significantly higher than earlier 1-year age transitions. Steep rate increases in the SEER 18 registries were found from 49 to 50 years of age in localized-stage (75.9% increase: 11.2 [95% CI, 10.7-11.7] to 19.7 [95% CI, 19.0-20.3] per 100 000) and regional-stage (30.3% increase: 13.2 [95% CI, 12.7-13.8] to 17.2 [95% CI, 16.7-17.8] per 100 000) colorectal cancers. A total of 8799 of the 9474 cases (92.9%) of colorectal cancer in the SEER 18 registries from 2000 to 2015 that were diagnosed among individuals aged 50 years were invasive. CONCLUSIONS AND RELEVANCE Steep incidence increases between 49 and 50 years of age are consistent with previously undetected colorectal cancers diagnosed via screening uptake at 50 years. These cancers are not reflected in observed rates of colorectal cancer in the SEER registries among individuals y...

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Section: Introductionmentioning

confidence: 99%

Trends in Incidence of Early-Onset Colorectal Cancer in the United States Among Those Approaching Screening Age

Abualkhair

Zhou

Ahnen³

et al. 2020

JAMA Netw Open

100

View full text Add to dashboard Cite

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“…The National Comprehensive Care Network (NCCN) Guidelines recommend patients with PALB2 variants undergo high‐risk screening with breast MRI and mammography . Similarly, the NCCN recommends patients who harbour the APC p.Ile1307Lys variant should undergo colonoscopy every 5 years starting at the age of 40 . We also report one patient with a single pathogenic variant in NTHL1 .…”

Section: Discussionmentioning

confidence: 71%

Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes

Larouche

Akirov

Thain

et al. 2019

Endocrino Diabet & Metabol

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Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms. The objective of this study was to identify germline gene variants associated with this combination of tumours. Design and patients A retrospective chart review (2007‐2018) in a tertiary NET referral centre was completed. A series of 9 female patients with concurrent breast cancer and NET is presented. All patients underwent a 37 gene hereditary cancer next‐generation sequencing panel. Results Mean age was 61.4 years (35‐85) at breast cancer diagnosis and 63.4 years (51‐89) at NET diagnosis. Four patients had a pancreatic, three had a small bowel and two had a lung NET. Two patients were known cases of MEN1, and one patient was found to harbour a pathogenic variant in MEN1 and a variant of unknown significance (VUS) in ATM. A second patient was found to harbour a pathogenic variant in APC. A third patient was found to carry a pathogenic variant in PALB2 as well as a VUS in FANCM, MLH1 and STK11. Another patient was found to harbour a VUS in MSH2. One patient was found to carry a pathogenic variant in NTHL1. Conclusion The first cases of a PALB2, an APC and a NTHL1 pathogenic variants in patients with both breast cancer and NET were presented. NGS testing should be considered in specific patients with this combination of neoplasms, as certain germline variants beyond MEN1, have important implications for cancer surveillance.

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“…MSI-high phenotype detected by PCR indicates there is a defect in the MMR system, but cannot predict which gene is involved in pathogenesis. Conversely, loss of protein expression detected by IHC in MMR proteins can guide genetic testing to a particular protein or protein complex [7]. In MMR system, two mismatch-binding complexes are crucial.…”

Section: Discussionmentioning

confidence: 99%

“…The most common genetic susceptibility for CRC is Lynch syndrome (LS)-also being one of the most common hereditary cancer syndrome [2]. Patients with LS have markedly increased lifetime risk of CRC and endometrial cancer (EC), as well as ovarian, gastric, hepatobiliary, bladder, renal, brain, breast, prostate, small intestine, pancreatic and sebaceous skin cancers [3][4][5][6][7]. The penetrance of LS is approximately 52% for CRC, 57% for EC, 38% for ovarian, and less than 20% for other previously mentioned cancers [8].…”

Section: Introductionmentioning

confidence: 99%

A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

Klančar

Blatnik

Dragoš

et al. 2020

Genes

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The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, and PMS2) involved in the MMR system using immunohistochemistry (IHC) staining. According to the National Comprehensive Cancer Network (NCCN) guidelines, definitive diagnosis of LS requires the identification of the germline pathogenic variant in one of the MMR genes. In the report, we are presenting interesting novel MLH1 in-frame deletion LRG_216t1:c.2236_2247delCTGCCTGATCTA p.(Leu746_Leu749del) associated with LS. The variant appears to be associated with uncommon isolated loss of PMS2 immunohistochemistry protein staining (expression) in tumor tissue instead of MLH1 and PMS2 protein loss, which is commonly seen with pathogenic variants in MLH1. The variant was classified as likely pathogenic, based on segregation analysis and molecular characterization of blood and tumor samples. According to the American College of Medical Genetics (ACMG) guidelines, the following evidence categories of PM1, PM2, PM4, and PP1 moderate have been used for classification of the novel variant. By detecting and classifying the novel MLH1 variant as likely pathogenic, we confirmed the LS in this family.

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NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018

Cited by 123 publications

References 42 publications

Trends in Incidence of Early-Onset Colorectal Cancer in the United States Among Those Approaching Screening Age

Trends in Incidence of Early-Onset Colorectal Cancer in the United States Among Those Approaching Screening Age

Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes

A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

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