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Pancreatic cancer, susceptibility to, 4(PNCA4)

MedGen UID:
482072
•Concept ID:
C3280442
•
Finding
Synonym: Pancreatic cancer 4
 
Gene (location): BRCA1 (17q21.31)
 
Monarch Initiative: MONDO:0013685
OMIM®: 614320

Disease characteristics

Excerpted from the GeneReview: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Nancie Petrucelli  |  Mary B Daly  |  Tuya Pal   view full author information

Professional guidelines

PubMed

Familial pancreatic cancer: who should be considered for genetic testing?
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
Familial pancreatic cancer: Concept, management and issues.
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Advances in Molecular Pathology and Treatment of Periampullary Cancers.
Chandrasegaram MD, Chen JW, Price TJ, Zalcberg J, Sjoquist K, Merrett ND
Pancreas 2016 Jan;45(1):32-9. doi: 10.1097/MPA.0000000000000385. PMID: 26348463

Curated

UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

Recent clinical studies

Etiology

Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.
Yuan S, Chen J, Ruan X, Sun Y, Zhang K, Wang X, Li X, Gill D, Burgess S, Giovannucci E, Larsson SC
Elife 2023 Feb 2;12 doi: 10.7554/eLife.84051. PMID: 36727839Free PMC Article
The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.
Dbouk M, Katona BW, Brand RE, Chak A, Syngal S, Farrell JJ, Kastrinos F, Stoffel EM, Blackford AL, Rustgi AK, Dudley B, Lee LS, Chhoda A, Kwon R, Ginsberg GG, Klein AP, Kamel I, Hruban RH, He J, Shin EJ, Lennon AM, Canto MI, Goggins M
J Clin Oncol 2022 Oct 1;40(28):3257-3266. Epub 2022 Jun 15 doi: 10.1200/JCO.22.00298. PMID: 35704792Free PMC Article
AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review.
Aslanian HR, Lee JH, Canto MI
Gastroenterology 2020 Jul;159(1):358-362. Epub 2020 May 19 doi: 10.1053/j.gastro.2020.03.088. PMID: 32416142
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
Pancreatic cancer.
Vincent A, Herman J, Schulick R, Hruban RH, Goggins M
Lancet 2011 Aug 13;378(9791):607-20. Epub 2011 May 26 doi: 10.1016/S0140-6736(10)62307-0. PMID: 21620466Free PMC Article

Diagnosis

The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.
Dbouk M, Katona BW, Brand RE, Chak A, Syngal S, Farrell JJ, Kastrinos F, Stoffel EM, Blackford AL, Rustgi AK, Dudley B, Lee LS, Chhoda A, Kwon R, Ginsberg GG, Klein AP, Kamel I, Hruban RH, He J, Shin EJ, Lennon AM, Canto MI, Goggins M
J Clin Oncol 2022 Oct 1;40(28):3257-3266. Epub 2022 Jun 15 doi: 10.1200/JCO.22.00298. PMID: 35704792Free PMC Article
AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review.
Aslanian HR, Lee JH, Canto MI
Gastroenterology 2020 Jul;159(1):358-362. Epub 2020 May 19 doi: 10.1053/j.gastro.2020.03.088. PMID: 32416142
Fibrocalculous Pancreatic Diabetes.
Unnikrishnan R, Mohan V
Curr Diab Rep 2020 Apr 11;20(6):19. doi: 10.1007/s11892-020-01303-1. PMID: 32277298
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
Pancreatic cancer.
Vincent A, Herman J, Schulick R, Hruban RH, Goggins M
Lancet 2011 Aug 13;378(9791):607-20. Epub 2011 May 26 doi: 10.1016/S0140-6736(10)62307-0. PMID: 21620466Free PMC Article

Therapy

Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.
Yuan S, Chen J, Ruan X, Sun Y, Zhang K, Wang X, Li X, Gill D, Burgess S, Giovannucci E, Larsson SC
Elife 2023 Feb 2;12 doi: 10.7554/eLife.84051. PMID: 36727839Free PMC Article
Sleep duration and risk of overall and 22 site-specific cancers: A Mendelian randomization study.
Titova OE, Michaëlsson K, Vithayathil M, Mason AM, Kar S, Burgess S, Larsson SC
Int J Cancer 2021 Feb 15;148(4):914-920. Epub 2020 Sep 14 doi: 10.1002/ijc.33286. PMID: 32895918Free PMC Article
T-Cell-Inflamed Gene-Expression Profile, Programmed Death Ligand 1 Expression, and Tumor Mutational Burden Predict Efficacy in Patients Treated With Pembrolizumab Across 20 Cancers: KEYNOTE-028.
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
The Role of Obesity, Type 2 Diabetes, and Metabolic Factors in Pancreatic Cancer: A Mendelian Randomization Study.
Carreras-Torres R, Johansson M, Gaborieau V, Haycock PC, Wade KH, Relton CL, Martin RM, Davey Smith G, Brennan P
J Natl Cancer Inst 2017 Sep 1;109(9) doi: 10.1093/jnci/djx012. PMID: 28954281Free PMC Article
The evolving landscape of neuroendocrine tumors.
Bergsland EK
Semin Oncol 2013 Feb;40(1):4-22. doi: 10.1053/j.seminoncol.2012.11.013. PMID: 23391109

Prognosis

Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.
Yuan S, Chen J, Ruan X, Sun Y, Zhang K, Wang X, Li X, Gill D, Burgess S, Giovannucci E, Larsson SC
Elife 2023 Feb 2;12 doi: 10.7554/eLife.84051. PMID: 36727839Free PMC Article
Fungal mycobiome drives IL-33 secretion and type 2 immunity in pancreatic cancer.
Alam A, Levanduski E, Denz P, Villavicencio HS, Bhatta M, Alhorebi L, Zhang Y, Gomez EC, Morreale B, Senchanthisai S, Li J, Turowski SG, Sexton S, Sait SJ, Singh PK, Wang J, Maitra A, Kalinski P, DePinho RA, Wang H, Liao W, Abrams SI, Segal BH, Dey P
Cancer Cell 2022 Feb 14;40(2):153-167.e11. Epub 2022 Feb 3 doi: 10.1016/j.ccell.2022.01.003. PMID: 35120601Free 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
T-Cell-Inflamed Gene-Expression Profile, Programmed Death Ligand 1 Expression, and Tumor Mutational Burden Predict Efficacy in Patients Treated With Pembrolizumab Across 20 Cancers: KEYNOTE-028.
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
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

Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis.
Yuan S, Chen J, Ruan X, Sun Y, Zhang K, Wang X, Li X, Gill D, Burgess S, Giovannucci E, Larsson SC
Elife 2023 Feb 2;12 doi: 10.7554/eLife.84051. PMID: 36727839Free PMC Article
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
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
Fungal mycobiome drives IL-33 secretion and type 2 immunity in pancreatic cancer.
Alam A, Levanduski E, Denz P, Villavicencio HS, Bhatta M, Alhorebi L, Zhang Y, Gomez EC, Morreale B, Senchanthisai S, Li J, Turowski SG, Sexton S, Sait SJ, Singh PK, Wang J, Maitra A, Kalinski P, DePinho RA, Wang H, Liao W, Abrams SI, Segal BH, Dey P
Cancer Cell 2022 Feb 14;40(2):153-167.e11. Epub 2022 Feb 3 doi: 10.1016/j.ccell.2022.01.003. PMID: 35120601Free PMC Article
T-Cell-Inflamed Gene-Expression Profile, Programmed Death Ligand 1 Expression, and Tumor Mutational Burden Predict Efficacy in Patients Treated With Pembrolizumab Across 20 Cancers: KEYNOTE-028.
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
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

Recent systematic reviews

Prognostic and Clinicopathological Significance of Circular RNA circ-ITCH Expression in Cancer Patients: A Meta-analysis.
Sun XD, Huan C, Sun DW, Lv GY
Biomed Res Int 2021;2021:8828299. Epub 2021 Feb 2 doi: 10.1155/2021/8828299. PMID: 33623789Free PMC Article
A systematic review and network meta-analysis of single nucleotide polymorphisms associated with pancreatic cancer risk.
Ye ZM, Li LJ, Luo MB, Qing HY, Zheng JH, Zhang C, Lu YX, Tang YM
Aging (Albany NY) 2020 Nov 20;12(24):25256-25274. doi: 10.18632/aging.104128. PMID: 33226370Free PMC Article
Association between GSTT1 Homozygous Deletion and Risk of Pancreatic Cancer: A Meta Analysis.
Cui JP, Lin MY, Liu ZH, Liu BL
Chin Med Sci J 2019 Sep 30;34(3):205-210. doi: 10.24920/003490. PMID: 31648673
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
Screening for pancreatic cancer in familial high-risk individuals: A systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

    Reviews

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