Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Benusiglio, Patrick R.; Coulet, Florence; Lefebvre, Alexandra; Duval, Alex

doi:10.1038/s41436-020-0819-0

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…Although universal screening is endorsed by multiple international guidelines (Berg et al 2009;Balmaña et al 2013;Giardiello et al 2014;NCCN 2020), challenges for its implementation are widely known, including logistics and costs (Vindigni and Kaz 2016;Palter et al 2019). Alternative options to universal screening, as age-targeted routine testing following Jerusalem criteria (Boland and Shike 2010), could be discussed as cost-saving strategies (Leenen et al 2016;Di Marco et al 2018;Benusiglio et al 2020). However, at the present moment, our results reveal that not even Bethesda guidelines are being observed, which shows there is considerable room for improvement.…”

Section: Discussionmentioning

confidence: 70%

When guidelines face reality — Lynch syndrome screening in the setting of public health system in a developing country

et al. 2021

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Lynch syndrome (LS) is the most common cause of hereditary colorectal cancer (CRC); however, it is still underrecognized and underdiagnosed. While international guidelines gravitate towards universal screening, the underuse of screening methods has been reported in real-world scenarios. This study aims to evaluate screening for LS among patients diagnosed with CRC in a public cancer center in Brazil and evaluate access to genetic counseling and testing for abnormal screens. For that purpose, all patients with CRC registered in our institution from July 2012 to December 2018 had their charts reviewed. Demographic and clinical characteristics were noted, as well as immunohistochemistry and microsatellite instability analysis results, when available. After applying exclusion criteria, a total of 1234 charts were reviewed. Among these, 257 patients were screened for LS, making up a 20.8% screening rate; when considering Jerusalem criteria, screening rate was 24.5%; for Bethesda criteria, it was 35.1%. Almost 80% of patients fulfilling Amsterdam criteria I/II were screened. There were 64 abnormal screens, from which 40 (62.5%) underwent genetic counseling and 12 (18.7%) underwent genetic testing. We concluded that overall screening rates for LS among CRC patients in a public cancer center in Brazil are low, and still very guided by stringent clinical criteria. Referral to genetic counseling and access to testing is limited, calling the whole process into question. Public policies aiming to raise awareness on hereditary cancer and include genetic testing in the public health system could help improve this scenario.

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Section: Discussionmentioning

confidence: 70%

When guidelines face reality — Lynch syndrome screening in the setting of public health system in a developing country

et al. 2021

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“…The guidelines also indicate a specific surveillance protocol for uterus/ovary carcinomas ( Table 2 ). As above-mentioned, the guidelines also recommend universal tumor screening for LS in all patients at the first diagnosis of CRC/EC, even if such a perfectly justified implementation could lead to a cascade of further investigations and procedures, along with potential challenges and difficulties [ 83 ].…”

Section: Surveillance Strategiesmentioning

confidence: 99%

Lynch Syndrome: From Carcinogenesis to Prevention Interventions

Gambini

Ferrero

Kuhn

2022

Cancers

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Lynch syndrome (LS) is the most common inherited disorder responsible for an increased risk of developing cancers at different sites, most frequently in the gastrointestinal and genitourinary tracts, caused by a germline pathogenic variant affecting the DNA mismatch repair system. Surveillance and risk-reducing procedures are currently available and warranted for LS patients, depending on underlying germline mutation, and are focused on relevant targets for early cancer diagnosis or primary prevention. Although pharmacological approaches for preventing LS-associated cancer development were started many years ago, to date, aspirin remains the most studied drug intervention and the only one suggested by the main surveillance guidelines, despite the conflicting findings. Furthermore, we also note that remarkable advances in anticancer drug discovery have given a significant boost to the application of novel immunological strategies such as immunocheckpoint inhibitors and vaccines, not only for cancer treatment, but also in a preventive setting. In this review, we outline the clinical, biologic, genetic, and morphological features of LS as well as the recent three-pathways carcinogenesis model. Furthermore, we provide an update on the dedicated screening, surveillance, and risk-reducing strategies for LS patients and describe emerging opportunities of harnessing the immune system.

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Uptake of Genetic Testing Among Patients with Cancer At Risk for Lynch Syndrome in the National Health Interview Survey

Actkins

Srinivasan

Spees

et al. 2021

Cancer Prevention Research

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Lynch syndrome is the most common inherited cancer syndrome that increases the risk of developing colorectal and endometrial cancer. Universal screening guidelines were first recommended by the Centers for Disease Control and Prevention (CDC) in 2009 and are updated annually by multiple societies. Therefore, one would expect genetic testing rates to increase over time. But testing remains underutilized among those with colorectal or endometrial cancer, even though early detection can improve prognosis and survival rates. In this study, we aimed to understand differences in genetic testing uptake among those with colorectal cancer or endometrial cancer from 2005, 2010, 2015, using data from the National Health Interview Survey (NHIS). We examined genetic testing uptake across cancer-type, age (≤50 or ≥51), sex, race, insurance, and education using a χ2 statistical analysis. Despite an upward genetic testing trend in 2010, we found no significant differences in genetic testing uptake over time. In 2010, non-White individuals experienced the highest increase from 2005 in comparison with White individuals. However, genetic testing rates declined for both groups by 2015. Our findings show that genetic testing for colorectal cancer and endometrial cancer did not increase over a 10-year period in spite of guidelines that recommend testing. Prevention Relevance: Genetic testing uptake for colorectal cancer and endometrial cancer has not increased over a 10-year period in spite of universal screening guidelines. More genetic testing education is needed at the provider and patient level to improve screening strategies for cancer patients who are most at risk for Lynch syndrome.

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Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Cited by 3 publications

References 10 publications

When guidelines face reality — Lynch syndrome screening in the setting of public health system in a developing country

When guidelines face reality — Lynch syndrome screening in the setting of public health system in a developing country

Lynch Syndrome: From Carcinogenesis to Prevention Interventions

Uptake of Genetic Testing Among Patients with Cancer At Risk for Lynch Syndrome in the National Health Interview Survey

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