title: Familial pancreatic cancer: genetic advances.
abstract: Beset by poor prognosis, pancreatic ductal adenocarcinoma is classified as familial or sporadic. This review elaborates on the known genetic syndromes that underlie familial pancreatic cancer, where there are opportunities for genetic counseling and testing as well as clinical monitoring of at-risk patients. Such subsets of familial pancreatic cancer involve germline cationic trypsinogen or PRSS1 mutations (hereditary pancreatitis), BRCA2 mutations (usually in association with hereditary breast-ovarian cancer syndrome), CDKN2 mutations (familial atypical mole and multiple melanoma), or DNA repair gene mutations (e.g., ATM and PALB2, apart from those in BRCA2). However, the vast majority of familial pancreatic cancer cases have yet to have their genetic underpinnings elucidated, waiting in part for the results of deep sequencing efforts.
authors.affiliation: Division of Gastroenterology, Department of Medicine and Genetics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Anil K
authors.initials: AK
authors.lastname: Rustgi
mesh_terms: D002277:Carcinoma / Q000209:etiology / Q000235:genetics*; D003110:Colonic Neoplasms / Q000150:complications / Q000235:genetics; D004260:DNA Repair / Q000235:genetics; D006801:Humans; D008545:Melanoma / Q000150:complications / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000209:etiology / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000150:complications / Q000235:genetics; D012878:Skin Neoplasms; D013577:Syndrome; D000096142:Cutaneous Malignant Melanoma
keywords: BRCA2; familial pancreatic cancer; genetic testing; hereditary pancreatitis