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Pancreatic cancer, susceptibility to, 2

MedGen UID:
461896
•Concept ID:
C3150546
•
Finding
Synonyms: Pancreatic cancer 2; Pancreatic Cancer Susceptibility 2
 
Gene (location): BRCA2 (13q13.1)
 
Monarch Initiative: MONDO:0013235
OMIM®: 613347

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

Clinical features

From HPO
Neoplasm of the pancreas
MedGen UID:
18279
•Concept ID:
C0030297
•
Neoplastic Process
A tumor (abnormal growth of tissue) 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
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
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

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

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
Early detection of pancreatic cancer.
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
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: Pathogenesis and Diagnosis.
Goral V
Asian Pac J Cancer Prev 2015;16(14):5619-24. doi: 10.7314/apjcp.2015.16.14.5619. PMID: 26320426

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
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
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
Early detection of pancreatic cancer.
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
Pancreatic Cancer: Pathogenesis and Diagnosis.
Goral V
Asian Pac J Cancer Prev 2015;16(14):5619-24. doi: 10.7314/apjcp.2015.16.14.5619. PMID: 26320426

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: 39052257
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
Is Type 2 Diabetes Causally Associated With Cancer Risk? Evidence From a Two-Sample Mendelian Randomization Study.
Yuan S, Kar S, Carter P, Vithayathil M, Mason AM, Burgess S, Larsson SC
Diabetes 2020 Jul;69(7):1588-1596. Epub 2020 Apr 29 doi: 10.2337/db20-0084. PMID: 32349989Free PMC Article
Diabetes, Pancreatogenic Diabetes, and Pancreatic Cancer.
Andersen DK, Korc M, Petersen GM, Eibl G, Li D, Rickels MR, Chari ST, Abbruzzese JL
Diabetes 2017 May;66(5):1103-1110. doi: 10.2337/db16-1477. PMID: 28507210Free PMC Article

Prognosis

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
Early detection of pancreatic cancer.
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
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: Pathogenesis and Diagnosis.
Goral V
Asian Pac J Cancer Prev 2015;16(14):5619-24. doi: 10.7314/apjcp.2015.16.14.5619. PMID: 26320426

Clinical prediction guides

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
Early detection of pancreatic cancer.
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
Molecular Pathogenesis of Cholangiocarcinoma.
Labib PL, Goodchild G, Pereira SP
BMC Cancer 2019 Feb 28;19(1):185. doi: 10.1186/s12885-019-5391-0. PMID: 30819129Free 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

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
Genetic variation of clock genes and cancer risk: a field synopsis and meta-analysis.
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
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
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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