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Pancreatic cancer, susceptibility to, 5(PNCA5)

MedGen UID:
1684838
Concept ID:
C5231459
Finding
Synonyms: PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
 
Gene (location): RABL3 (3q13.33)
 
Monarch Initiative: MONDO:0032867
OMIM®: 618680

Definition

Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC (Nissim et al., 2019). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. [from OMIM]

Clinical features

From HPO
Melanoma
MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMost melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).
Pancreatic adenocarcinoma
MedGen UID:
83800
Concept ID:
C0281361
Neoplastic Process
The presence of an adenocarcinoma of the pancreas.

Professional guidelines

PubMed

Stoffel EM, Brand RE, Goggins M
Gastroenterology 2023 Apr;164(5):752-765. Epub 2023 Feb 18 doi: 10.1053/j.gastro.2023.02.012. PMID: 36804602Free PMC Article
Sawhney MS, Calderwood AH, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Qumseya BJ; Prepared by: ASGE STANDARDS OF PRACTICE COMMITTEE
Gastrointest Endosc 2022 May;95(5):817-826. Epub 2022 Feb 16 doi: 10.1016/j.gie.2021.12.001. PMID: 35183358
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

Recent clinical studies

Etiology

Stoffel EM, Brand RE, Goggins M
Gastroenterology 2023 Apr;164(5):752-765. Epub 2023 Feb 18 doi: 10.1053/j.gastro.2023.02.012. PMID: 36804602Free PMC Article
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
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
Goral V
Asian Pac J Cancer Prev 2015;16(14):5619-24. doi: 10.7314/apjcp.2015.16.14.5619. PMID: 26320426
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

Stoffel EM, Brand RE, Goggins M
Gastroenterology 2023 Apr;164(5):752-765. Epub 2023 Feb 18 doi: 10.1053/j.gastro.2023.02.012. PMID: 36804602Free PMC Article
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
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
Goral V
Asian Pac J Cancer Prev 2015;16(14):5619-24. doi: 10.7314/apjcp.2015.16.14.5619. PMID: 26320426
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

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
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
Grossberg AJ, Chu LC, Deig CR, Fishman EK, Hwang WL, Maitra A, Marks DL, Mehta A, Nabavizadeh N, Simeone DM, Weekes CD, Thomas CR Jr
CA Cancer J Clin 2020 Sep;70(5):375-403. Epub 2020 Jul 19 doi: 10.3322/caac.21626. PMID: 32683683Free 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
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

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
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
Grossberg AJ, Chu LC, Deig CR, Fishman EK, Hwang WL, Maitra A, Marks DL, Mehta A, Nabavizadeh N, Simeone DM, Weekes CD, Thomas CR Jr
CA Cancer J Clin 2020 Sep;70(5):375-403. Epub 2020 Jul 19 doi: 10.3322/caac.21626. PMID: 32683683Free 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
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

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
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
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

Limijadi EKS, Muniroh M, Prajoko YW, Tjandra KC, Respati DRP
PLoS One 2024;19(5):e0299276. Epub 2024 May 29 doi: 10.1371/journal.pone.0299276. PMID: 38809921Free PMC Article
Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS
J Hum Genet 2020 Jan;65(2):199-205. Epub 2019 Oct 16 doi: 10.1038/s10038-019-0680-7. PMID: 31619740
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
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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    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

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