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Pancreatic cancer, susceptibility to, 1

MedGen UID:
339739
•Concept ID:
C1847351
•
Finding
Synonym: Pancreatic Cancer Susceptibility 1
 
Gene (location): PALLD (4q32.3)
 
Monarch Initiative: MONDO:0011739
OMIM®: 606856

Definition

Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. [from MONDO]

Clinical features

From HPO
Pancreatic adenocarcinoma
MedGen UID:
83800
•Concept ID:
C0281361
•
Neoplastic Process
The presence of an adenocarcinoma of the pancreas.
See: Feature record | Search on this feature

Professional guidelines

PubMed

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051. PMID: 37856201
Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring.
Li W, Liu JB, Hou LK, Yu F, Zhang J, Wu W, Tang XM, Sun F, Lu HM, Deng J, Bai J, Li J, Wu CY, Lin QL, Lv ZW, Wang GR, Jiang GX, Ma YS, Fu D
Mol Cancer 2022 Jan 20;21(1):25. doi: 10.1186/s12943-022-01505-z. PMID: 35057806Free PMC Article
Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article

Recent clinical studies

Etiology

Systemic Therapy for Metastatic Pancreatic Cancer.
Ettrich TJ, Seufferlein T
Curr Treat Options Oncol 2021 Oct 19;22(11):106. doi: 10.1007/s11864-021-00895-4. PMID: 34665339Free PMC Article
Hereditary pancreatic cancer.
Abe K, Kitago M, Kitagawa Y, Hirasawa A
Int J Clin Oncol 2021 Oct;26(10):1784-1792. Epub 2021 Sep 2 doi: 10.1007/s10147-021-02015-6. PMID: 34476650Free PMC Article
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA
J Natl Compr Canc Netw 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001. PMID: 33406487
Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ
JAMA 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228. PMID: 29922827Free PMC Article

Diagnosis

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051. PMID: 37856201
Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring.
Li W, Liu JB, Hou LK, Yu F, Zhang J, Wu W, Tang XM, Sun F, Lu HM, Deng J, Bai J, Li J, Wu CY, Lin QL, Lv ZW, Wang GR, Jiang GX, Ma YS, Fu D
Mol Cancer 2022 Jan 20;21(1):25. doi: 10.1186/s12943-022-01505-z. PMID: 35057806Free PMC Article
Hereditary pancreatic cancer.
Abe K, Kitago M, Kitagawa Y, Hirasawa A
Int J Clin Oncol 2021 Oct;26(10):1784-1792. Epub 2021 Sep 2 doi: 10.1007/s10147-021-02015-6. PMID: 34476650Free PMC Article
Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
Yoshida R
Breast Cancer 2021 Nov;28(6):1167-1180. Epub 2020 Aug 29 doi: 10.1007/s12282-020-01148-2. PMID: 32862296Free PMC Article
Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article

Therapy

BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.
Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN
JAMA Oncol 2024 Sep 1;10(9):1272-1281. doi: 10.1001/jamaoncol.2024.2185. PMID: 39052257Free PMC Article
Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Huntley C, Torr B, Sud A, Rowlands CF, Way R, Snape K, Hanson H, Swanton C, Broggio J, Lucassen A, McCartney M, Houlston RS, Hingorani AD, Jones ME, Turnbull C
Lancet Oncol 2023 Jun;24(6):658-668. Epub 2023 May 10 doi: 10.1016/S1470-2045(23)00156-0. PMID: 37178708
Systemic Therapy for Metastatic Pancreatic Cancer.
Ettrich TJ, Seufferlein T
Curr Treat Options Oncol 2021 Oct 19;22(11):106. doi: 10.1007/s11864-021-00895-4. PMID: 34665339Free PMC Article
Human Gut Microbiota and Gastrointestinal Cancer.
Meng C, Bai C, Brown TD, Hood LE, Tian Q
Genomics Proteomics Bioinformatics 2018 Feb;16(1):33-49. Epub 2018 Feb 21 doi: 10.1016/j.gpb.2017.06.002. PMID: 29474889Free PMC Article
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K
JAMA 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. PMID: 28873162Free PMC Article

Prognosis

Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring.
Li W, Liu JB, Hou LK, Yu F, Zhang J, Wu W, Tang XM, Sun F, Lu HM, Deng J, Bai J, Li J, Wu CY, Lin QL, Lv ZW, Wang GR, Jiang GX, Ma YS, Fu D
Mol Cancer 2022 Jan 20;21(1):25. doi: 10.1186/s12943-022-01505-z. PMID: 35057806Free PMC Article
Systemic Therapy for Metastatic Pancreatic Cancer.
Ettrich TJ, Seufferlein T
Curr Treat Options Oncol 2021 Oct 19;22(11):106. doi: 10.1007/s11864-021-00895-4. PMID: 34665339Free PMC Article
Hereditary pancreatic cancer.
Abe K, Kitago M, Kitagawa Y, Hirasawa A
Int J Clin Oncol 2021 Oct;26(10):1784-1792. Epub 2021 Sep 2 doi: 10.1007/s10147-021-02015-6. PMID: 34476650Free PMC Article
Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
Yoshida R
Breast Cancer 2021 Nov;28(6):1167-1180. Epub 2020 Aug 29 doi: 10.1007/s12282-020-01148-2. PMID: 32862296Free PMC Article
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ
JAMA 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228. PMID: 29922827Free PMC Article

Clinical prediction guides

BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.
Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN
JAMA Oncol 2024 Sep 1;10(9):1272-1281. doi: 10.1001/jamaoncol.2024.2185. PMID: 39052257Free PMC Article
Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring.
Li W, Liu JB, Hou LK, Yu F, Zhang J, Wu W, Tang XM, Sun F, Lu HM, Deng J, Bai J, Li J, Wu CY, Lin QL, Lv ZW, Wang GR, Jiang GX, Ma YS, Fu D
Mol Cancer 2022 Jan 20;21(1):25. doi: 10.1186/s12943-022-01505-z. PMID: 35057806Free PMC Article
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle AB, Momozawa Y
EBioMedicine 2020 Oct;60:103033. Epub 2020 Sep 24 doi: 10.1016/j.ebiom.2020.103033. PMID: 32980694Free PMC Article
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ
JAMA 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228. PMID: 29922827Free PMC Article
Genomic spectra of biliary tract cancer.
Nakamura H, Arai Y, Totoki Y, Shirota T, Elzawahry A, Kato M, Hama N, Hosoda F, Urushidate T, Ohashi S, Hiraoka N, Ojima H, Shimada K, Okusaka T, Kosuge T, Miyagawa S, Shibata T
Nat Genet 2015 Sep;47(9):1003-10. Epub 2015 Aug 10 doi: 10.1038/ng.3375. PMID: 26258846

Recent systematic reviews

Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis.
Li Y, Liu L, Huang Y, Zheng H, Li L
BMC Med Genet 2020 Feb 24;21(1):41. doi: 10.1186/s12881-020-0975-8. PMID: 32093636Free PMC Article
Genetic polymorphisms and pancreatic cancer risk: A PRISMA-compliant systematic review and meta-analysis.
Dai P, Li J, Li W, Qin X, Wu X, Di W, Zhang Y
Medicine (Baltimore) 2019 Aug;98(32):e16541. doi: 10.1097/MD.0000000000016541. PMID: 31393355Free PMC Article
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.
Stoffel EM, McKernin SE, Brand R, Canto M, Goggins M, Moravek C, Nagarajan A, Petersen GM, Simeone DM, Yurgelun M, Khorana AA
J Clin Oncol 2019 Jan 10;37(2):153-164. Epub 2018 Nov 20 doi: 10.1200/JCO.18.01489. PMID: 30457921
Pancreatitis-Associated Genes and Pancreatic Cancer Risk: A Systematic Review and Meta-analysis.
Cazacu IM, Farkas N, Garami A, Balaskó M, Mosdósi B, Alizadeh H, Gyöngyi Z, Rakonczay Z Jr, Vigh É, Habon T, Czopf L, Lazarescu MA, Erőss B, Sahin-Tóth M, Hegyi P
Pancreas 2018 Oct;47(9):1078-1086. doi: 10.1097/MPA.0000000000001145. PMID: 30134356Free PMC Article
Systematic review and meta-analysis on targeted therapy in advanced pancreatic cancer.
Ciliberto D, Staropoli N, Chiellino S, Botta C, Tassone P, Tagliaferri P
Pancreatology 2016 Mar-Apr;16(2):249-58. Epub 2016 Jan 20 doi: 10.1016/j.pan.2016.01.003. PMID: 26852170

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