ArticleClinical cancer research : an official journal of the American Association for Cancer Research2023
The Impact of Germline Alterations in Appendiceal Adenocarcinoma.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Survival Outcomes in Early Onset Appendiceal Adenocarcinoma (EOAA).Annals of surgical oncology · 2026Article
- Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes.Annals of surgical oncology · 2026Article
- Integrated Liquid Biopsy and Tumor Tissue Genomic Profiling of Appendiceal Cancer: cfDNA Burden, Mutation Landscapes, and Clinical Outcomes.Annals of surgical oncology · 2026Article
- An appendiceal cancer organoid biobank identifies phenotypic evolution and druggable dependencies of peritoneal carcinomatosis.Developmental cell · 2026Article
- Consensus Guideline for the Management of Patients with Appendiceal Tumors, Part 1: Appendiceal Tumors Without Peritoneal Involvement.Annals of surgical oncology · 2026Article
- Defining a 'cells to society' research framework for appendiceal tumours.Nature reviews. Cancer · 2025Review
- Molecular and Clinicopathologic Impact of GNAS Variants Across Solid Tumors.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Article
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
purposeMore than 10% of assessed patients with appendiceal adenocarcinoma have a pathogenic (P) or likely pathogenic (LP) germline variant, including genes implicated in heritable gastrointestinal cancer syndromes, such as Lynch syndrome. We defined the clinical and molecular impact of heritable alterations in appendiceal adenocarcinoma to evaluate the need for dedicated appendiceal screening and prevention strategies in patients with LP/P germline variants. EXPERIMENTAL
designWe performed an integrated germline and somatic molecular analysis for patients with confirmed appendiceal adenocarcinoma. Patients underwent paired tumor-normal sequencing for up to 90 hereditary cancer risk genes and 505 genes for somatic mutation profiling. We defined the cooccurrence of LP/P germline variants and second-hit pathogenic somatic alterations. The associations between germline variants and patient clinicopathologic features were also evaluated.
resultsTwenty-five of 237 patients (10.5%) carried pathogenic or likely pathogenic germline variants in cancer susceptibility genes. Clinicopathologic characteristics and appendiceal adenocarcinoma-specific survival were similar in patients with or without germline variants. Most (92%, N = 23/25) patients with germline variants demonstrated no second-hit somatic alterations, including loss of heterozygosity. Two patients with a germline APC I1307K low-penetrance founder variant exhibited secondary somatic pathogenic alterations in APC. However, only one patient tumor exhibited APC-mediated WNT signaling dysregulation: a plausible consequence of multiple somatic APC mutations with no germline variant contribution. Four patients had germline variants in PMS2 or MSH2 associated with Lynch syndrome, yet their cancers were microsatellite-stable.
conclusionsGermline variants are likely incidental without a contributory driver role in appendiceal adenocarcinoma. Appendiceal adenocarcinoma screening in patients with germline variants is not clearly merited.
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