Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice

BACKGROUND: Identification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family. AIM: To assess the referral pathways for genetic consultations in PDAC. METHODS: Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genet...

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Detalles Bibliográficos
Autores principales: Fulton, Alexander JP, Lamarca, Angela, Nuttall, Christina, McCallum, Lynne, Pihlak, Rille, O’Reilly, Derek, Lalloo, Fiona, McNamara, Mairéad G, Hubner, Richard A, Clancy, Tara, Valle, Juan W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Retrospective Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379756/
https://www.ncbi.nlm.nih.gov/pubmed/30788038
http://dx.doi.org/10.4251/wjgo.v11.i2.102
Descripción
Sumario:BACKGROUND: Identification of germ-line mutations in pancreatic ductal adenocarcinoma (PDAC) could impact on patient/family. AIM: To assess the referral pathways for genetic consultations in PDAC. METHODS: Electronic records of PDAC patients were reviewed retrospectively. Patients eligible for genetic consultation referral were identified following the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) criteria. RESULTS: Four-hundred patients were eligible. Of 113 patients (28.3%) meeting EUROPAC criteria, 8.8% were referred for genetic opinion. Germ-line mutations were identified in 0.75% of the whole population. CONCLUSION: Earlier referrals and increased awareness may be able to overcome the low rate of successful genetic appointments.

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