Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Am J Hum Genet. 2019.
PMID: 31422818
Free PMC article.
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Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Am J Hum Genet. 2019 Sep 5;105(3):526-533. doi: 10.1016/j.ajhg.2019.07.012. Epub 2019 Aug 15.
Am J Hum Genet. 2019.
PMID: 31422818
Free PMC article.
We evaluated actionable genomic findings in community-based participants ascertained by three phenotypes: (1) CRC, (2) one or more adenomatous colon polyps, and (3) control participants over age 59 years without CRC or colon polyps. These …
We evaluated actionable genomic findings in community-based participants ascertained by three phenotypes: (1) CR …
Outcomes of upper endoscopy screening in Lynch syndrome: a meta-analysis.
Gastrointest Endosc. 2023 Jan;97(1):2-10.e1. doi: 10.1016/j.gie.2022.08.040. Epub 2022 Sep 6.
Gastrointest Endosc. 2023.
PMID: 36084717
Review.
Mantel-Haenszel pooled odds ratios and 95% confidence intervals (CIs) for outcomes were constructed using a random-effects model to identify pooled odds of endoscopic findings in persons with LS. Event rates for detection of gastric and duodenal cancers, high …
Mantel-Haenszel pooled odds ratios and 95% confidence intervals (CIs) for outcomes were constructed using a random-effects model to identify …
Inherited DNA-Repair Defects in Colorectal Cancer.
Am J Hum Genet. 2018 Mar 1;102(3):401-414. doi: 10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22.
Am J Hum Genet. 2018.
PMID: 29478780
Free PMC article.
Colorectal cancer (CRC) heritability has been estimated to be around 30%. ...We evaluated the gene-level germline mutation enrichment of 40 DRGs in 680 unselected CRC individuals and 27,728 ancestry-matched cancer-free adults. Significant findings …
Colorectal cancer (CRC) heritability has been estimated to be around 30%. ...We evaluated the gene-level germline mutation enr …
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Genet Med. 2020 Nov;22(11):1883-1886. doi: 10.1038/s41436-020-0881-7. Epub 2020 Jul 1.
Genet Med. 2020.
PMID: 32606442
Free PMC article.
PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individuals. ...Participants had no previous diagnosis or current symptoms of cardiovascular disease, physical disability …
PURPOSE: To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly …
Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome.
Cancer Control. 2023 Jan-Dec;30:10732748231175011. doi: 10.1177/10732748231175011.
Cancer Control. 2023.
PMID: 37161761
Free PMC article.
The Cancer Genetics Program at an academic medical center implemented a population-based cancer family history screening program, Detecting Unaffected Individuals with Lynch syndrome, to aid in identification of individuals with Lynch syn …
The Cancer Genetics Program at an academic medical center implemented a population-based cancer family history s …
Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
JCO Precis Oncol. 2022 Nov;6:e2200517. doi: 10.1200/PO.22.00517.
JCO Precis Oncol. 2022.
PMID: 36370464
Free PMC article.
PURPOSE: Whether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer (CRC) remains uncertain. Therefore, we aimed to determine the yield and potential clinical impact of MGPT across a large, diverse CRC cohort …
PURPOSE: Whether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer …
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
JAMA Netw Open. 2022 Oct 3;5(10):e2238167. doi: 10.1001/jamanetworkopen.2022.38167.
JAMA Netw Open. 2022.
PMID: 36279135
Free PMC article.
IMPORTANCE: In 2020, some health insurance plans updated their medical policy to cover germline genetic testing for all patients diagnosed with colorectal cancer (CRC). ...OBJECTIVES: To examine whether uptake of MSI/IHC screening and germline genet …
IMPORTANCE: In 2020, some health insurance plans updated their medical policy to cover germline genetic testing for all patien …
Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark.
JCO Precis Oncol. 2021 Jul 1;5:PO.21.00132. doi: 10.1200/PO.21.00132. eCollection 2021.
JCO Precis Oncol. 2021.
PMID: 34585040
Free PMC article.
PMS2, MUTYH, and ATM P/LP variants were found at higher rates among those outside of criteria. CONCLUSION: Among Medicare beneficiaries undergoing genetic testing for suspected LS, rates of P/LP variants in actionable cancer genes were similar r …
PMS2, MUTYH, and ATM P/LP variants were found at higher rates among those outside of criteria. CONCLUSION: Among Medicare beneficiari …
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Clin Genet. 2014 Dec;86(6):510-20. doi: 10.1111/cge.12359. Epub 2014 Mar 20.
Clin Genet. 2014.
PMID: 24506336
Free PMC article.
This study presents results from patients who underwent hereditary colorectal cancer (CRC) panel-based testing ('ColoNext() '). De-identified data from a clinical testing laboratory were used to calculate (1) frequencies for patient demographic, clinical, and family …
This study presents results from patients who underwent hereditary colorectal cancer (CRC) panel-based testing ('ColoNext() ') …
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
Gynecol Oncol. 2017 Jul;146(1):123-128. doi: 10.1016/j.ygyno.2017.04.009. Epub 2017 May 8.
Gynecol Oncol. 2017.
PMID: 28495237
Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines. ...Three hundred and fifty-four …
Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Networ …
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