Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing

Maga, Tara; Balay, Lara; Jung, Barbara

doi:10.1038/ctg.2017.19

Cited by 7 publications

(6 citation statements)

References 12 publications

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“…VUS represents an important challenge for the clinician and could become a significant source of anxiety and distress for patients, although the official recommendation in the setting of a VUS is to manage the patient on the basis of the personal and family history. 8,11,12,23…”

Section: Discussionmentioning

confidence: 99%

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Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis

Ricci

Volorio²,

Signoroni

et al. 2019

Tumori Journal

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Introduction: Recent advances in technology and research are rapidly changing the diagnostic approach to hereditary gastrointestinal cancer (HGIC) syndromes. Although the practice of clinical genetics is currently transitioning from targeted criteria-based testing to multigene panels, important challenges remain to be addressed. The aim of this study was to develop and technically validate the performance of a multigene panel for HGIC. Methods: CGT-colon-G14 is an amplicon-based panel designed to detect single nucleotide variants and small insertions/deletions in 14 well-established or presumed high-penetrance genes involved in HGIC. The assay parameters tested were sensitivity, specificity, accuracy, and inter-run and intra-run reproducibility. Performance and clinical impact were determined using 48 samples of patients with suspected HGIC/polyposis previously tested with the targeted approach. Results: The CGT-colon-G14 panel showed 99.99% accuracy and 100% inter- and intra-run reproducibility. Moreover, panel testing detected 1 actionable pathogenic variant and 16 variants with uncertain clinical impact that were missed by the conventional approach because they were located in genes not previously analyzed. Conclusion: Introduction of the CGT-colon-G14 panel into the clinic could provide a higher diagnostic yield than a step-wise approach; however, results may not always be straightforward without the implementation of new genetic counseling models.

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Section: Discussionmentioning

confidence: 99%

“…5–7 Although multigene testing has been proven to be an efficient approach for comprehensive, cost-effective, and time-saving evaluation of multiple genes, 8–10 its introduction into routine practice raises many concerns about its impact on result interpretation as well as patient counseling and management. 11,12…”

Section: Introductionmentioning

confidence: 99%

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis

Ricci

Volorio²,

Signoroni

et al. 2019

Tumori Journal

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“…Germline mutations in GI cancer susceptibility genes, including MLH1, MSH2, MSH6, APC, CDKN2A, CDH1 and PALB2 are reported. [ 36 - 38 ]…”

Section: Major Risk Factors Of Gi Cancersmentioning

confidence: 99%

“…Germline mutations in GI cancer susceptibility genes, including MLH1, MSH2, MSH6, APC, CDKN2A, CDH1 and PALB2 are reported. [36][37][38] Other GI diseases Several diseases of the GI tract, if untreated, may develop into cancer. Gastritis, a stomach inflammation, if chronically persists, can cause gastric cancer.…”

Section: Hereditary Factorsmentioning

confidence: 99%

Systemic Diseases and Risk of Developing Gastrointestinal Cancer.

Malkani

Rashid

2023

J Cancer Allied Spec

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Importance: Gastrointestinal (GI) cancers are the second leading cause of cancer-related deaths worldwide. Observations: The global challenges GI cancers pose are high, especially in middle- and low-income countries. Patients with these cancers present with symptoms of poor appetite, weight loss, heartburn, abdominal pain, fatigue, and anaemia. Several risk factors contribute to GI cancers, including age, gender, obesity, pathogenic infections, smoking cigarettes, alcohol consumption, and dietary habits. Most of these cancers are sporadic. However, some patients are at high risk because of a family history of GI cancers. Systemic diseases affect multiple organs, and their chronic occurrence elicits inflammatory responses at various sites. These diseases also contribute to GI cancers. Conclusion and Relevance: In this review, we discuss that untreated systemic diseases, including diabetes, hepatitis, AIDS, ulcers, and hypertension, can potentially lead to GI cancers if they remain untreated for a longer period. Systemic diseases initiate oxidative stress, inflammatory pathways, and genetic manipulations, which altogether confer risks to GI cancers. Here, we describe the association between systemic diseases and their underlying mechanisms leading to GI cancers.

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“…According to Ferlay et al, (2019) estimations showed that in 2018, approximately 18.1 million new cancer cases and 9.6 million cancer deaths were recorded in the world. It is expected that new cases will increase with the highest percentage and burden occurring in developing countries by 2030 (Maga et al, 2017). While a diagnosis of cancer was once considered a death sentence, in recent years, cancer survival statistics have dramatically improved with more than 50% of newly diagnosed patients surviving beyond 5 years after diagnosis (Jalai et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Nurses’ Perceived Challenges in the Management of Hospitalized Cancer Patients in a Comprehensive Cancer Center in Southeastern Nigeria

Iheanacho

Opara

Ifezulumba

et al. 2022

Asian Pac J Cancer Prev

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Objective: Nurses' challenges in poor-resource countries like Nigeria have been understudied. This study determined nurses' perceived challenges in management of hospitalized cancer patients in a comprehensive cancer center in southeast of Nigeria. Methods: The descriptive study included 133 registered nurses working in medical-surgical and oncology wards. A 37-item questionnaire included seven (7) questions on socioeconomic, 16 questions related to nurse's knowledge, and 14 questions related to cancer treatment and the hospital facility. A significant challenge was defined as a mean score of more than 3 in a Likert scale 5 points. Results: Challenges included a shortage of nurses (inadequate numbers of skilled nurses in oncology and other wards with mean±sd score (4.73±0.58), lack of continuing education on current trends in the management of cancer (4.03±0.45), and lack of oncology trained nursing experts for job mentoring (4.24±0.77). Others were managing patients facing chemotherapy related side-effects (3.06±2.12), high cost of treatment borne by cancer patients (4.41±0.68) and exorbitant hospital bills (4.72±0.48), non-availability of drugs (4.09±0.87) and institutional policy bottlenecks affecting subsidizing treatment costs (4.09±0.84). Cancer care affected mainly by inadequate and functional equipment (4.24±0.55), and with no staff remuneration (4.53± 0.85). Conclusion: Nurses' Perceived Challenges were related to professional, institutional, and those related to patient.

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Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing

Cited by 7 publications

References 12 publications

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis

Systemic Diseases and Risk of Developing Gastrointestinal Cancer.

Nurses’ Perceived Challenges in the Management of Hospitalized Cancer Patients in a Comprehensive Cancer Center in Southeastern Nigeria

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