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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

Harbi E, Aschner M
Mol Biol Rep 2025 Mar 5;52(1):281. doi: 10.1007/s11033-025-10403-8. PMID: 40042715
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: 39052257Free PMC Article
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

Recent clinical studies

Etiology

de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, Minillo RM, de Vasconcelos Carvalho Neto G, Grivicich I, Oliveira JB
Eur J Hum Genet 2022 Jul;30(7):818-823. Epub 2022 May 9 doi: 10.1038/s41431-022-01098-7. PMID: 35534704Free PMC Article
Bhanji Y, Isaacs WB, Xu J, Cooney KA
Urol Clin North Am 2021 Aug;48(3):283-296. Epub 2021 Jun 12 doi: 10.1016/j.ucl.2021.03.001. PMID: 34210485
Van Cott C
Surg Clin North Am 2020 Jun;100(3):483-498. Epub 2020 Apr 16 doi: 10.1016/j.suc.2020.02.012. PMID: 32402295
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
Garber JE, Offit K
J Clin Oncol 2005 Jan 10;23(2):276-92. doi: 10.1200/JCO.2005.10.042. PMID: 15637391

Diagnosis

Mur P, Viana-Errasti J, García-Mulero S, Magraner-Pardo L, Muñoz IG, Pons T, Capellá G, Pineda M, Feliubadaló L, Valle L
Genome Med 2023 Oct 17;15(1):85. doi: 10.1186/s13073-023-01234-y. PMID: 37848928Free PMC Article
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
Van Cott C
Surg Clin North Am 2020 Jun;100(3):483-498. Epub 2020 Apr 16 doi: 10.1016/j.suc.2020.02.012. PMID: 32402295
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
Garber JE, Offit K
J Clin Oncol 2005 Jan 10;23(2):276-92. doi: 10.1200/JCO.2005.10.042. PMID: 15637391

Therapy

Luzarraga Aznar A, Elyashiv O, Dababou S, Palasz NA, Canturk MM, Montero-Macias R, Pavone M, Jayraj AS, Hsu HC, Ramirez PT
Int J Gynecol Cancer 2026 Feb;36(2):102809. Epub 2025 Nov 20 doi: 10.1016/j.ijgc.2025.102809. PMID: 41411699
Johannet P, Rousseau B, Aghajanian C, Foote MB, Diaz LA Jr
Nat Rev Clin Oncol 2025 Oct;22(10):734-759. Epub 2025 Jul 10 doi: 10.1038/s41571-025-01054-6. PMID: 40640471
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: 39052257Free 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
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

Prognosis

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
Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE
Genet Med 2020 Apr;22(4):701-708. Epub 2019 Dec 19 doi: 10.1038/s41436-019-0729-1. PMID: 31853058Free PMC Article
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
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

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
Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L
Genet Med 2020 Dec;22(12):2089-2100. Epub 2020 Aug 14 doi: 10.1038/s41436-020-0922-2. PMID: 32792570Free PMC Article
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

Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Hüneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sánchez-Guillén L, Seppälä TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Möslein G
Br J Surg 2024 May 3;111(5) doi: 10.1093/bjs/znae070. PMID: 38722804Free PMC Article
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
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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