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Pancreatic cancer, susceptibility to, 3

MedGen UID:
461897
Concept ID:
C3150547
Finding
Synonyms: Pancreatic cancer 3; Pancreatic Cancer Susceptibility 3
 
Gene (location): PALB2 (16p12.2)
 
Monarch Initiative: MONDO:0013236
OMIM®: 613348

Definition

Individuals with mutation in the PALB2 gene have an increased risk of developing pancreatic cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., familial breast-ovarian cancer (BROVCA5; 620422) (Jones et al., 2009; Yang et al., 2020). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. [from OMIM]

Professional guidelines

PubMed

Fu Y, Lucas AL
Gastrointest Endosc Clin N Am 2022 Jan;32(1):27-43. doi: 10.1016/j.giec.2021.08.006. PMID: 34798985
Kartal K, Guan Z, Tang R, Griffin M, Wang Y, Braun D, Klein AP, Hughes KS
Ir J Med Sci 2022 Apr;191(2):641-650. Epub 2021 Mar 17 doi: 10.1007/s11845-021-02572-9. PMID: 33733397
DE Simone P, Valiante M, Silipo V
G Ital Dermatol Venereol 2017 Jun;152(3):262-265. Epub 2017 Jan 24 doi: 10.23736/S0392-0488.17.05554-7. PMID: 28121081

Recent clinical studies

Etiology

Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M
JAMA Oncol 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476. PMID: 35420638Free PMC Article
Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC
J Clin Oncol 2022 May 10;40(14):1529-1541. Epub 2022 Jan 25 doi: 10.1200/JCO.21.02112. PMID: 35077220Free PMC Article
Pereira SP, Oldfield L, Ney A, Hart PA, Keane MG, Pandol SJ, Li D, Greenhalf W, Jeon CY, Koay EJ, Almario CV, Halloran C, Lennon AM, Costello E
Lancet Gastroenterol Hepatol 2020 Jul;5(7):698-710. Epub 2020 Mar 2 doi: 10.1016/S2468-1253(19)30416-9. PMID: 32135127Free PMC Article
Nasir A, Bullo MMH, Ahmed Z, Imtiaz A, Yaqoob E, Jadoon M, Ahmed H, Afreen A, Yaqoob S
Crit Rev Food Sci Nutr 2020;60(8):1375-1387. Epub 2019 Feb 7 doi: 10.1080/10408398.2019.1571480. PMID: 30729798
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

Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M
JAMA Oncol 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476. PMID: 35420638Free PMC Article
Pereira SP, Oldfield L, Ney A, Hart PA, Keane MG, Pandol SJ, Li D, Greenhalf W, Jeon CY, Koay EJ, Almario CV, Halloran C, Lennon AM, Costello E
Lancet Gastroenterol Hepatol 2020 Jul;5(7):698-710. Epub 2020 Mar 2 doi: 10.1016/S2468-1253(19)30416-9. PMID: 32135127Free PMC Article
Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ
Genet Med 2020 Mar;22(3):622-632. Epub 2019 Oct 21 doi: 10.1038/s41436-019-0682-z. PMID: 31636395Free PMC Article
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
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

Therapy

King SD, Veliginti S, Brouwers MCGJ, Ren Z, Zheng W, Setiawan VW, Wilkens LR, Shu XO, Arslan AA, Beane Freeman LE, Bracci PM, Canzian F, Du M, Gallinger SJ, Giles GG, Goodman PJ, Haiman CA, Kogevinas M, Kooperberg C, LeMarchand L, Neale RE, Visvanathan K, White E, Albanes D, Andreotti G, Babic A, Berndt SI, Brais LK, Brennan P, Buring JE, Rabe KG, Bamlet WR, Chanock SJ, Fuchs CS, Gaziano JM, Giovannucci EL, Hackert T, Hassan MM, Katzke V, Kurtz RC, Lee IM, Malats N, Murphy N, Oberg AL, Orlow I, Porta M, Real FX, Rothman N, Sesso HD, Silverman DT, Thompson IM, Wactawski-Wende J, Wang X, Wentzensen N, Yu H, Zeleniuch-Jacquotte A, Yu K, Wolpin BM, Duell EJ, Li D, Hung RJ, Perdomo S, McCullough ML, Freedman ND, Patel AV, Peters U, Riboli E, Sund M, Tjønneland A, Zhong J, Van Den Eeden SK, Kraft P, Risch HA, Amundadottir LT, Klein AP, Stolzenberg-Solomon RZ, Antwi SO
Cancer Epidemiol Biomarkers Prev 2023 Sep 1;32(9):1265-1269. doi: 10.1158/1055-9965.EPI-23-0453. PMID: 37351909Free PMC Article
Sahai E, Astsaturov I, Cukierman E, DeNardo DG, Egeblad M, Evans RM, Fearon D, Greten FR, Hingorani SR, Hunter T, Hynes RO, Jain RK, Janowitz T, Jorgensen C, Kimmelman AC, Kolonin MG, Maki RG, Powers RS, Puré E, Ramirez DC, Scherz-Shouval R, Sherman MH, Stewart S, Tlsty TD, Tuveson DA, Watt FM, Weaver V, Weeraratna AT, Werb Z
Nat Rev Cancer 2020 Mar;20(3):174-186. Epub 2020 Jan 24 doi: 10.1038/s41568-019-0238-1. PMID: 31980749Free PMC Article
Ott PA, Bang YJ, Piha-Paul SA, Razak ARA, Bennouna J, Soria JC, Rugo HS, Cohen RB, O'Neil BH, Mehnert JM, Lopez J, Doi T, van Brummelen EMJ, Cristescu R, Yang P, Emancipator K, Stein K, Ayers M, Joe AK, Lunceford JK
J Clin Oncol 2019 Feb 1;37(4):318-327. Epub 2018 Dec 13 doi: 10.1200/JCO.2018.78.2276. PMID: 30557521
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
Yang D, Forsmark CE
Curr Opin Gastroenterol 2017 Sep;33(5):396-403. doi: 10.1097/MOG.0000000000000377. PMID: 28771447

Prognosis

Del Nero L, Dabizzi E, Ceglie A, Ziola S, Zerbi A, Baron TH, Conio M
Clin Res Hepatol Gastroenterol 2023 Mar;47(3):102079. Epub 2023 Jan 18 doi: 10.1016/j.clinre.2023.102079. PMID: 36681116
Yang R, Liang X, Wang H, Guo M, Shen H, Shi Y, Liu Q, Sun Y, Yang L, Zhan M
EBioMedicine 2021 Jan;63:103195. Epub 2021 Jan 6 doi: 10.1016/j.ebiom.2020.103195. PMID: 33418496Free PMC Article
Pereira SP, Oldfield L, Ney A, Hart PA, Keane MG, Pandol SJ, Li D, Greenhalf W, Jeon CY, Koay EJ, Almario CV, Halloran C, Lennon AM, Costello E
Lancet Gastroenterol Hepatol 2020 Jul;5(7):698-710. Epub 2020 Mar 2 doi: 10.1016/S2468-1253(19)30416-9. PMID: 32135127Free PMC Article
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
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

Clinical prediction guides

Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M
JAMA Oncol 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476. PMID: 35420638Free PMC Article
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
Pereira SP, Oldfield L, Ney A, Hart PA, Keane MG, Pandol SJ, Li D, Greenhalf W, Jeon CY, Koay EJ, Almario CV, Halloran C, Lennon AM, Costello E
Lancet Gastroenterol Hepatol 2020 Jul;5(7):698-710. Epub 2020 Mar 2 doi: 10.1016/S2468-1253(19)30416-9. PMID: 32135127Free PMC Article
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
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

Recent systematic reviews

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
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
Benna C, Helfrich-Förster C, Rajendran S, Monticelli H, Pilati P, Nitti D, Mocellin S
Oncotarget 2017 Apr 4;8(14):23978-23995. doi: 10.18632/oncotarget.15074. PMID: 28177907Free PMC Article
Franks PW, Atabaki-Pasdar N
J Intern Med 2017 Mar;281(3):222-232. Epub 2016 Dec 8 doi: 10.1111/joim.12577. PMID: 27933671
Lu C, Xu CF, Wan XY, Zhu HT, Yu CH, Li YM
World J Gastroenterol 2015 Jul 28;21(28):8678-86. doi: 10.3748/wjg.v21.i28.8678. PMID: 26229410Free PMC Article

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