Genetic testing is important in families with a history suggestive of hereditary non-olyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

1997 ◽  
Vol 84 (7) ◽  
pp. 1027-1028 ◽  
Author(s):  
M. A. Rodriguez-Bigas ◽  
N. E. Beck
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Amsterdam Criteria

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

1997 ◽  
Vol 84 (2) ◽  
pp. 233-237 ◽  
Author(s):  
N. E. Beck ◽  
I. P. M. Tomlinson ◽  
T. Homfray ◽  
S. V. Hodgson ◽  
C. J. Harocopos ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Amsterdam Criteria

Who Should Be Sent for Genetic Testing in Hereditary Colorectal Cancer Syndromes?

2007 ◽  
Vol 25 (23) ◽  
pp. 3534-3542 ◽  
Author(s):  
Henry T. Lynch ◽  
C. Richard Boland ◽  
Miguel A. Rodriguez-Bigas ◽  
Christopher Amos ◽  
Jane F. Lynch ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Hereditary Colorectal Cancer ◽  
Genetic Counselors ◽  
Amsterdam Criteria ◽  
Syndrome Diagnosis ◽  
Hereditary Colorectal Cancer Syndromes ◽  
Informative Family ◽  
Peutz Jeghers Syndrome ◽  
Cancer Syndromes

Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

1997 ◽  
Vol 84 (2) ◽  
pp. 233-237 ◽  
Author(s):  
N. E. Beck ◽  
I. P. M. Tomlinson ◽  
T. Homfray ◽  
S. V. Hodgson ◽  
C. J. Harocopos ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Amsterdam Criteria

scholarly journals Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Abram Bunya Kamiza ◽  
Wen-Chang Wang ◽  
Jeng-Fu You ◽  
Reiping Tang ◽  
Huei-Tzu Chien ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cumulative Risk ◽  
Germline Mutations ◽  
Han Chinese ◽  
Chinese Patients ◽  
Mutation Carriers ◽  
Amsterdam Criteria ◽  
Cumulative Risks ◽  
Age And Sex

AbstractPatients with Lynch syndrome have a high risk of colorectal cancer (CRC). In this study, we estimated the age- and sex-specific cumulative risks of CRC in Han Chinese patients with Lynch syndrome caused by the pathogenic germline mutations in MLH1 or MSH2 in Taiwan. Based on 321 mutation carriers and 419 non-mutation carriers from 75 pedigrees collected in an Amsterdam criteria family registry in Taiwan, the age- and sex-specific cumulative risks of CRC in male carriers of mutation in MLH1 and MSH2 at the age of 70 years were 60.3% (95% confidence interval (CI) = 31.1%–89.9%) and 76.7% (95% CI = 37.2%–99.0%), respectively. For females, the cumulative risks of CRC at the age of 70 were estimated to be 30.6% (95% CI = 14.3%–57.7%) and 49.3% (95% CI = 21.9%–84.5%) in the carriers of MLH1 and MSH2 germline mutations, respectively. In conclusion, the cumulative risks of CRC at the age of 70 in the Han Chinese patients is higher in mutation carriers than non-mutation carriers and male mutation carriers have a higher cumulative risk of developing CRC than the female mutation carriers.

scholarly journals Cost-Effectiveness of Colorectal Cancer Genetic Testing

2021 ◽  
Vol 18 (16) ◽  
pp. 8330
Author(s):  
Abdul Rahman Ramdzan ◽  
Mohd Rizal Abdul Manaf ◽  
Azimatun Noor Aizuddin ◽  
Zarina A. Latiff ◽  
Keng Wee Teik ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Cost Effectiveness ◽  
Cancer Survival ◽  
Screening Method ◽  
Targeted Prevention ◽  
Activity Based Costing ◽  
Cross Sectional ◽  
Increased Risk ◽  
The Cost

Colorectal cancer (CRC) remains the second leading cause of cancer-related deaths worldwide. Approximately 3–5% of CRCs are associated with hereditary cancer syndromes. Individuals who harbor germline mutations are at an increased risk of developing early onset CRC, as well as extracolonic tumors. Genetic testing can identify genes that cause these syndromes. Early detection could facilitate the initiation of targeted prevention strategies and surveillance for CRC patients and their families. The aim of this study was to determine the cost-effectiveness of CRC genetic testing. We utilized a cross-sectional design to determine the cost-effectiveness of CRC genetic testing as compared to the usual screening method (iFOBT) from the provider’s perspective. Data on costs and health-related quality of life (HRQoL) of 200 CRC patients from three specialist general hospitals were collected. A mixed-methods approach of activity-based costing, top-down costing, and extracted information from a clinical pathway was used to estimate provider costs. Patients and family members’ HRQoL were measured using the EQ-5D-5L questionnaire. Data from the Malaysian Study on Cancer Survival (MySCan) were used to calculate patient survival. Cost-effectiveness was measured as cost per life-year (LY) and cost per quality-adjusted life-year (QALY). The provider cost for CRC genetic testing was high as compared to that for the current screening method. The current practice for screening is cost-saving as compared to genetic testing. Using a 10-year survival analysis, the estimated number of LYs gained for CRC patients through genetic testing was 0.92 years, and the number of QALYs gained was 1.53 years. The cost per LY gained and cost per QALY gained were calculated. The incremental cost-effectiveness ratio (ICER) showed that genetic testing dominates iFOBT testing. CRC genetic testing is cost-effective and could be considered as routine CRC screening for clinical practice.

Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10514-10514
Author(s):  
Sarah M. Nielsen ◽  
Joline Dalton ◽  
Kathryn E. Hatchell ◽  
Stacey DaCosta Byfield ◽  
Chad Moretz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Clinical Information ◽  
The United States ◽  
Clinical Treatment ◽  
Administrative Claims ◽  
Treatment Trials ◽  
Precision Therapy ◽  
Medical Policy ◽  
Germline Testing

10514 Background: Colorectal cancer (CRC) affects approximately 104,000 patients (pts) annually in the United States, up to 45% of which are estimated to be genetic and/or familial. Aligned with clinical guidelines, in 2020, a large U.S. insurer established Medical Policy allowing for and reimbursing germline genetic testing (GGT) for all CRC pts. This study reports overall uptake of GGT in CRC pts under this inclusive policy, actionable findings and treatment implications for pts tested, stratified by self-reported ancestry/ethnicity. Methods: Two independent de-identified datasets were reviewed, including administrative claims data of commercially insured and Medicare Advantage enrollees, aged 18+ with CRC (≥1 claim with ICD10 C18, C19 or C20 in the first position) who were continuously enrolled (CE) in the health plan from 1/2019-10/2020. Evidence of genetic testing based on CPT codes, was examined during 2020. A second de-identified dataset of CRC pts whose GGT was billed to the insurer under the Medical Policy, was also reviewed. Patient demographics, clinical information and GGT results were descriptively analyzed. Results: Of the >18,000,000 CE enrollees, 55,595 were identified as CRC pts, of whom 1,675 (3%) received GGT. From the GGT dataset, 788 pts had test results available for review. 143 (18%) pts had pathogenic/likely pathogenic (P/LP) variants in genes including MSH2, MLH1, PMS2, MSH6, CHEK2, APC, BRCA2, ATM, MUTYH (biallelic). Of pts with P/LP variants, 96 (67%) were potentially eligible for precision therapy and/or clinical treatment trials. Overall, 133 (93%) had P/LP variants in genes with precision therapy, clinical trial and/or published management implications. In a subset of pts (n=674) with ethnicity data; Asian, Black/African-American and Hispanic pts showed lower relative uptake of germline testing than Caucasians (Table). Conclusions: Despite Medical Policy allowing for GGT for all pts with CRC, only 3% of eligible pts received testing. If all CRC pts had been tested, these data suggest up to 6,705 pts with P/LP variants conferring potential eligibility for precision therapy (PD-1/PD-L1 inhibitors) or clinical treatment trials (PARP inhibitors), and an additional 2,602 pts with mutations in genes with published management recommendations, could have been identified, but were missed. Additional research is needed to identify obstacles to systematic implementation of this Medical Policy, the best timing of GGT to prevent CRC and improve access to underrepresented populations. CRC patients with germline genetic testing.[Table: see text]

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