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Hereditary cancer

MedGen UID:
232504
Concept ID:
C1333600
Neoplastic Process
Synonyms: Familial Cancer; Familial Malignant Neoplasm; Hereditary Cancer; Hereditary Malignant Neoplasm

Definition

Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary cancer

Professional guidelines

PubMed

Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M
J Natl Compr Canc Netw 2021 Oct 15;19(10):1122-1132. doi: 10.1164/jnccn.2021.0048. PMID: 34666312
Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free PMC Article
Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS Jr, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart AK
JAMA Oncol 2021 Feb 1;7(2):230-237. doi: 10.1001/jamaoncol.2020.6252. PMID: 33126242Free PMC Article

Recent clinical studies

Etiology

Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C
Hum Mutat 2020 Dec;41(12):2128-2142. Epub 2020 Oct 14 doi: 10.1002/humu.24110. PMID: 32906215
Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G
BMC Cancer 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4. PMID: 31159747Free PMC Article
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Weitz J, Koch M, Debus J, Höhler T, Galle PR, Büchler MW
Lancet 2005 Jan 8-14;365(9454):153-65. doi: 10.1016/S0140-6736(05)17706-X. PMID: 15639298
Garber JE, Offit K
J Clin Oncol 2005 Jan 10;23(2):276-92. doi: 10.1200/JCO.2005.10.042. PMID: 15637391

Diagnosis

Garutti M, Foffano L, Mazzeo R, Michelotti A, Da Ros L, Viel A, Miolo G, Zambelli A, Puglisi F
Genes (Basel) 2023 Apr 30;14(5) doi: 10.3390/genes14051025. PMID: 37239385Free PMC Article
Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G
BMC Cancer 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4. PMID: 31159747Free PMC Article
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article
Weitz J, Koch M, Debus J, Höhler T, Galle PR, Büchler MW
Lancet 2005 Jan 8-14;365(9454):153-65. doi: 10.1016/S0140-6736(05)17706-X. PMID: 15639298

Therapy

Bazan-Peregrino M, Garcia-Carbonero R, Laquente B, Álvarez R, Mato-Berciano A, Gimenez-Alejandre M, Morgado S, Rodríguez-García A, Maliandi MV, Riesco MC, Moreno R, Ginestà MM, Perez-Carreras M, Gornals JB, Prados S, Perea S, Capella G, Alemany R, Salazar R, Blasi E, Blasco C, Cascallo M, Hidalgo M
J Immunother Cancer 2021 Nov;9(11) doi: 10.1136/jitc-2021-003254. PMID: 35149591Free PMC Article
Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmaña J, Domchek SM, Gelmon KA, Hollingsworth SJ, Korde LA, Linderholm B, Bandos H, Senkus E, Suga JM, Shao Z, Pippas AW, Nowecki Z, Huzarski T, Ganz PA, Lucas PC, Baker N, Loibl S, McConnell R, Piccart M, Schmutzler R, Steger GG, Costantino JP, Arahmani A, Wolmark N, McFadden E, Karantza V, Lakhani SR, Yothers G, Campbell C, Geyer CE Jr; OlympiA Clinical Trial Steering Committee and Investigators
N Engl J Med 2021 Jun 24;384(25):2394-2405. Epub 2021 Jun 3 doi: 10.1056/NEJMoa2105215. PMID: 34081848Free PMC Article
Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free PMC Article
Poveda A, Floquet A, Ledermann JA, Asher R, Penson RT, Oza AM, Korach J, Huzarski T, Pignata S, Friedlander M, Baldoni A, Park-Simon TW, Tamura K, Sonke GS, Lisyanskaya A, Kim JH, Filho EA, Milenkova T, Lowe ES, Rowe P, Vergote I, Pujade-Lauraine E; SOLO2/ENGOT-Ov21 investigators
Lancet Oncol 2021 May;22(5):620-631. Epub 2021 Mar 18 doi: 10.1016/S1470-2045(21)00073-5. PMID: 33743851
Biller LH, Syngal S, Yurgelun MB
Fam Cancer 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. PMID: 30627969Free PMC Article

Prognosis

Maratt JK, Stoffel E
Gastrointest Endosc Clin N Am 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. PMID: 34798986
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
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Weitz J, Koch M, Debus J, Höhler T, Galle PR, Büchler MW
Lancet 2005 Jan 8-14;365(9454):153-65. doi: 10.1016/S0140-6736(05)17706-X. PMID: 15639298

Clinical prediction guides

Spaander MCW, Zauber AG, Syngal S, Blaser MJ, Sung JJ, You YN, Kuipers EJ
Nat Rev Dis Primers 2023 Apr 27;9(1):21. doi: 10.1038/s41572-023-00432-7. PMID: 37105987Free PMC Article
Maratt JK, Stoffel E
Gastrointest Endosc Clin N Am 2022 Jan;32(1):45-58. doi: 10.1016/j.giec.2021.09.002. PMID: 34798986
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG
JAMA Oncol 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. PMID: 26182300
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article

Recent systematic reviews

Bedrosian I, Somerfield MR, Achatz MI, Boughey JC, Curigliano G, Friedman S, Kohlmann WK, Kurian AW, Laronga C, Lynce F, Norquist BS, Plichta JK, Rodriguez P, Shah PD, Tischkowitz M, Wood M, Yadav S, Yao K, Robson ME
J Clin Oncol 2024 Feb 10;42(5):584-604. Epub 2024 Jan 4 doi: 10.1200/JCO.23.02225. PMID: 38175972
Diez de Los Rios de la Serna C, Fernández-Ortega P, Lluch-Canut T
Int J Environ Res Public Health 2022 Oct 28;19(21) doi: 10.3390/ijerph192114098. PMID: 36360977Free PMC Article
Gomes P, Pietrabissa G, Silva ER, Silva J, Matos PM, Costa ME, Bertuzzi V, Silva E, Neves MC, Sales CMD
Int J Environ Res Public Health 2022 Jan 30;19(3) doi: 10.3390/ijerph19031603. PMID: 35162625Free PMC Article
Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free PMC Article
Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM
J Clin Oncol 2020 Apr 10;38(11):1222-1245. Epub 2020 Jan 27 doi: 10.1200/JCO.19.02960. PMID: 31986064Free PMC Article

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