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Open AccessArticle

Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy

1
Gastroenterology Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d’Investigacions Biomediques August Pi i Sunyer, 08036 Barcelona, Spain
2
Pathology Department, Centre for Biomedical Diagnosis, Hospital Clínic, 08036 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Authors share senior authorship.
Cancers 2020, 12(9), 2386; https://doi.org/10.3390/cancers12092386
Received: 7 August 2020 / Revised: 20 August 2020 / Accepted: 21 August 2020 / Published: 23 August 2020
(This article belongs to the Special Issue The Study of Cancer Susceptibility Genes)
The identification of high-risk groups of gastric (GC) and pancreatic adenocarcinoma (PC) due to a hereditary basis could imply a benefit in the affected families by establishing personalized preventive strategies. We aimed at assessing the diagnostic yield of GC/PC hereditary syndromes in individuals evaluated based on specific clinical criteria. In total, 77 unrelated individuals (45 from GC group/32 from PC group) were recruited: 51 (66.2%) cancer diagnosis ≤60 years, 3 (4%) with personal history of GC/PC and other cancer and 23 (29.8%) due to family history. Immunohistochemical analysis of DNA mismatch repair proteins was performed in 38 (49.3%) available tumors, being pathological in one (2%) GC. A genetic analysis was performed if clinical criteria of hereditary syndrome were fulfilled, identifying a mutation in 10/22 (45.5%) families [7/16 (43.7%) with GC and 3/6 (50%) with PC] and 19 (24.7%) fulfilled criteria of familial cancer. Diagnosis of cancer <40 years and personal history of other cancers were independent risk factors of a hereditary syndrome [OR:11.3 (95%IC 1.9–67); p = 0.007 and OR:17.4 (95% IC 2.5–119.9); p = 0.004; respectively]. The selection of patients based on clinical criteria leads to high diagnostic yield, detecting a causative germline mutation in almost half of the cases; therefore, both meticulous genetic counseling and use of multi-gen panels is crucial. View Full-Text
Keywords: gastric cancer; pancreatic cancer; hereditary cancer; familial cancer; genetic counselling gastric cancer; pancreatic cancer; hereditary cancer; familial cancer; genetic counselling
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Llach, J.; Moreno, L.; Sánchez, A.; Herrera-Pariente, C.; Ocaña, T.; Cuatrecasas, M.; Rivero-Sánchez, L.; Moreira, R.; Díaz, M.; Jung, G.; Pellisé, M.; Castells, A.; Balaguer, F.; Carballal, S.; Moreira, L. Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy. Cancers 2020, 12, 2386.

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