PMID- 36116416 OWN - NLM STAT- MEDLINE DCOM- 20221012 LR - 20240102 IS - 1879-3320 (Electronic) IS - 0960-7404 (Linking) VI - 44 DP - 2022 Sep TI - Role of genetic testing in hepatic, pancreatic, and biliary cancers. PG - 101844 LID - S0960-7404(22)00139-6 [pii] LID - 10.1016/j.suronc.2022.101844 [doi] AB - Hepatic, pancreatic, and biliary (HPB) cancers, including hepatocellular carcinoma (HCC), pancreatic ductal adenocarcinoma (PDAC), and cholangiocarcinoma (CCA) cause a disproportionate amount of the global cancer-related mortality. Despite advances in surgical technique and improved systemic therapies, overall 5-year survival remains dismal, especially for patients with pancreatic and biliary cancer. Historically, systemic therapies for patients with HPB cancers were administered in a "one-size-fits-all" approach due to limited reliable data on efficacy for specific patient populations. However, recent advances in genetic testing techniques have greatly improved our understanding of HPB oncogenesis, shedding light on specific genetic mutations responsible for progression from physiologic cellular regulation to uninhibited cellular replication and invasive cancer. Investigations into the oncogenesis of HPB cancers have revealed multiple actionable genetic variants, as well as increased susceptibilities to currently available systemic therapies. For example, patients with PDAC and a known BRCA mutation are more likely to benefit from FOLFIRINOX or gemcitabine plus cisplatin. While patients with CCA and a IDH1 mutation may benefit from ivosidenib. As a result, many national and societal guidelines now recommend some form of genetic testing in the workup of patients with HPB cancers. We herein review the role of genetic testing in these aggressive cancers including DNA sequencing techniques, clinically relevant mutations, therapeutic implications, and current clinical recommendations. CI - Copyright (c) 2022 Elsevier Ltd. All rights reserved. FAU - Hewitt, D Brock AU - Hewitt DB AD - Department of Surgery, The Ohio State Wexner Medical Center, Columbus, OH, USA. FAU - Aziz, Hassan AU - Aziz H AD - Department of Surgery, Tufts University Medical Center, Boston, MA, USA. FAU - Brown, Zachary J AU - Brown ZJ AD - Department of Surgery, The Ohio State Wexner Medical Center, Columbus, OH, USA. FAU - Pawlik, Timothy M AU - Pawlik TM AD - Department of Surgery, The Ohio State Wexner Medical Center, Columbus, OH, USA. Electronic address: Tim.pawlik@osumc.edu. LA - eng PT - Journal Article PT - Review DEP - 20220905 PL - Netherlands TA - Surg Oncol JT - Surgical oncology JID - 9208188 RN - Q20Q21Q62J (Cisplatin) SB - IM MH - Antineoplastic Combined Chemotherapy Protocols/therapeutic use MH - *Bile Duct Neoplasms/pathology MH - Bile Ducts, Intrahepatic/pathology MH - *Biliary Tract Neoplasms/genetics MH - Carcinogenesis/genetics MH - *Carcinoma, Hepatocellular/drug therapy MH - *Carcinoma, Pancreatic Ductal/pathology MH - Cisplatin/therapeutic use MH - Genetic Testing MH - Humans MH - *Liver Neoplasms/drug therapy/genetics MH - *Pancreatic Neoplasms/pathology OTO - NOTNLM OT - Biliary OT - Cancer OT - Genetics OT - Liver OT - Pancreas OT - Testing EDAT- 2022/09/19 06:00 MHDA- 2022/10/13 06:00 CRDT- 2022/09/18 18:25 PHST- 2022/06/19 00:00 [received] PHST- 2022/08/21 00:00 [revised] PHST- 2022/08/24 00:00 [accepted] PHST- 2022/09/19 06:00 [pubmed] PHST- 2022/10/13 06:00 [medline] PHST- 2022/09/18 18:25 [entrez] AID - S0960-7404(22)00139-6 [pii] AID - 10.1016/j.suronc.2022.101844 [doi] PST - ppublish SO - Surg Oncol. 2022 Sep;44:101844. doi: 10.1016/j.suronc.2022.101844. Epub 2022 Sep 5.