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Colorectal cancer, susceptibility to, 10(CRCS10)

MedGen UID:
436445
Concept ID:
C2675481
Finding
Synonyms: Colorectal cancer 10; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q
 
Gene (location): POLD1 (19q13.33)
 
Monarch Initiative: MONDO:0012953
OMIM®: 612591

Definition

Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. [from MONDO]

Clinical features

From HPO
Endometrial carcinoma
MedGen UID:
96903
Concept ID:
C0476089
Neoplastic Process
A carcinoma of the endometrium, the mucous lining of the uterus.
Colorectal polyposis
MedGen UID:
182694
Concept ID:
C0949059
Neoplastic Process
Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process

Professional guidelines

PubMed

Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2023 Oct;25(10):100870. Epub 2023 Jul 25 doi: 10.1016/j.gim.2023.100870. PMID: 37490054Free PMC Article
Xin J, Du M, Gu D, Jiang K, Wang M, Jin M, Hu Y, Ben S, Chen S, Shao W, Li S, Chu H, Zhu L, Li C, Chen K, Ding K, Zhang Z, Shen H, Wang M
Genome Med 2023 Jan 24;15(1):4. doi: 10.1186/s13073-023-01156-9. PMID: 36694225Free PMC Article
Stoffel EM, Carethers JM
Annu Rev Med 2020 Jan 27;71:85-102. Epub 2019 Nov 22 doi: 10.1146/annurev-med-052318-101009. PMID: 31756137

Recent clinical studies

Etiology

Xin J, Du M, Gu D, Jiang K, Wang M, Jin M, Hu Y, Ben S, Chen S, Shao W, Li S, Chu H, Zhu L, Li C, Chen K, Ding K, Zhang Z, Shen H, Wang M
Genome Med 2023 Jan 24;15(1):4. doi: 10.1186/s13073-023-01156-9. PMID: 36694225Free PMC Article
Liu W, Mahdessian H, Helgadottir H, Zhou X, Thutkawkorapin J, Jiao X; Swedish Low-risk Colorectal Cancer Study Group, Wolk A, Lindblom A
Mol Carcinog 2022 Mar;61(3):288-300. Epub 2021 Nov 10 doi: 10.1002/mc.23366. PMID: 34758156
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K
Mol Aspects Med 2019 Oct;69:10-26. Epub 2019 Mar 18 doi: 10.1016/j.mam.2019.03.001. PMID: 30862463
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group
JAMA Oncol 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194. PMID: 27978560Free PMC Article
Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC
Genet Med 2016 Oct;18(10):974-81. Epub 2016 Feb 4 doi: 10.1038/gim.2015.212. PMID: 26845104

Diagnosis

Hampel H, Kalady MF, Pearlman R, Stanich PP
Hematol Oncol Clin North Am 2022 Jun;36(3):429-447. Epub 2022 May 13 doi: 10.1016/j.hoc.2022.02.002. PMID: 35577708
Lah TT, Novak M, Breznik B
Semin Cancer Biol 2020 Feb;60:262-273. Epub 2019 Oct 22 doi: 10.1016/j.semcancer.2019.10.010. PMID: 31654711
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
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group
JAMA Oncol 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194. PMID: 27978560Free PMC Article

Therapy

Yarmolinsky J, Díez-Obrero V, Richardson TG, Pigeyre M, Sjaarda J, Paré G, Walker VM, Vincent EE, Tan VY, Obón-Santacana M, Albanes D, Hampe J, Gsur A, Hampel H, Pai RK, Jenkins M, Gallinger S, Casey G, Zheng W, Amos CI; International Lung Cancer Consortium; PRACTICAL consortium; MEGASTROKE consortium, Smith GD, Martin RM, Moreno V
PLoS Med 2022 Feb;19(2):e1003897. Epub 2022 Feb 3 doi: 10.1371/journal.pmed.1003897. PMID: 35113855Free PMC Article
Zhou X, Wang L, Xiao J, Sun J, Yu L, Zhang H, Meng X, Yuan S, Timofeeva M, Law PJ, Houlston RS, Ding K, Dunlop MG, Theodoratou E, Li X
Int J Cancer 2022 Jul 1;151(1):83-94. Epub 2022 Jan 31 doi: 10.1002/ijc.33945. PMID: 35102554Free PMC Article
Suzuki S, Goto A, Nakatochi M, Narita A, Yamaji T, Sawada N, Katagiri R, Iwagami M, Hanyuda A, Hachiya T, Sutoh Y, Oze I, Koyanagi YN, Kasugai Y, Taniyama Y, Ito H, Ikezaki H, Nishida Y, Tamura T, Mikami H, Takezaki T, Suzuki S, Ozaki E, Kuriki K, Takashima N, Arisawa K, Takeuchi K, Tanno K, Shimizu A, Tamiya G, Hozawa A, Kinoshita K, Wakai K, Sasaki M, Yamamoto M, Matsuo K, Tsugane S, Iwasaki M
Cancer Sci 2021 Apr;112(4):1579-1588. Epub 2021 Feb 25 doi: 10.1111/cas.14824. PMID: 33506574Free PMC Article
Goto A, Yamaji T, Sawada N, Momozawa Y, Kamatani Y, Kubo M, Shimazu T, Inoue M, Noda M, Tsugane S, Iwasaki M
Int J Cancer 2020 Feb 1;146(3):712-719. Epub 2019 Apr 25 doi: 10.1002/ijc.32310. PMID: 30927373Free PMC Article
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr
N Engl J Med 2015 Jun 25;372(26):2509-20. Epub 2015 May 30 doi: 10.1056/NEJMoa1500596. PMID: 26028255Free PMC Article

Prognosis

Suzuki S, Goto A, Nakatochi M, Narita A, Yamaji T, Sawada N, Katagiri R, Iwagami M, Hanyuda A, Hachiya T, Sutoh Y, Oze I, Koyanagi YN, Kasugai Y, Taniyama Y, Ito H, Ikezaki H, Nishida Y, Tamura T, Mikami H, Takezaki T, Suzuki S, Ozaki E, Kuriki K, Takashima N, Arisawa K, Takeuchi K, Tanno K, Shimizu A, Tamiya G, Hozawa A, Kinoshita K, Wakai K, Sasaki M, Yamamoto M, Matsuo K, Tsugane S, Iwasaki M
Cancer Sci 2021 Apr;112(4):1579-1588. Epub 2021 Feb 25 doi: 10.1111/cas.14824. PMID: 33506574Free PMC Article
Goto A, Yamaji T, Sawada N, Momozawa Y, Kamatani Y, Kubo M, Shimazu T, Inoue M, Noda M, Tsugane S, Iwasaki M
Int J Cancer 2020 Feb 1;146(3):712-719. Epub 2019 Apr 25 doi: 10.1002/ijc.32310. PMID: 30927373Free PMC Article
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr
N Engl J Med 2015 Jun 25;372(26):2509-20. Epub 2015 May 30 doi: 10.1056/NEJMoa1500596. PMID: 26028255Free PMC Article
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

Clinical prediction guides

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
Suzuki S, Goto A, Nakatochi M, Narita A, Yamaji T, Sawada N, Katagiri R, Iwagami M, Hanyuda A, Hachiya T, Sutoh Y, Oze I, Koyanagi YN, Kasugai Y, Taniyama Y, Ito H, Ikezaki H, Nishida Y, Tamura T, Mikami H, Takezaki T, Suzuki S, Ozaki E, Kuriki K, Takashima N, Arisawa K, Takeuchi K, Tanno K, Shimizu A, Tamiya G, Hozawa A, Kinoshita K, Wakai K, Sasaki M, Yamamoto M, Matsuo K, Tsugane S, Iwasaki M
Cancer Sci 2021 Apr;112(4):1579-1588. Epub 2021 Feb 25 doi: 10.1111/cas.14824. PMID: 33506574Free PMC Article
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr
N Engl J Med 2015 Jun 25;372(26):2509-20. Epub 2015 May 30 doi: 10.1056/NEJMoa1500596. PMID: 26028255Free PMC Article
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

Feng Z, Yang X, Tian M, Zeng N, Bai Z, Deng W, Zhao Y, Guo J, Yang Y, Zhang Z, Yang Y
BMC Cancer 2023 Aug 29;23(1):807. doi: 10.1186/s12885-023-11328-w. PMID: 37644384Free PMC Article
Miao Z, Wang K, Wang X, Zhang C, Xu Y
J BUON 2018 Nov-Dec;23(6):1616-1624. PMID: 30610785
Mirjalili SA, Moghimi M, Aghili K, Jafari M, Abolbaghaei SM, Neamatzadeh H, Mazaheri M, Zare-Shehneh M
Arq Gastroenterol 2018 Jul-Sep;55(3):306-313. doi: 10.1590/S0004-2803.201800000-66. PMID: 30540096
Luo G, Zhang Y, Wang L, Huang Y, Yu Q, Guo P, Li K
Int J Surg 2016 Oct;34:88-95. Epub 2016 Aug 26 doi: 10.1016/j.ijsu.2016.08.518. PMID: 27568653
Henrikson NB, Webber EM, Goddard KA, Scrol A, Piper M, Williams MS, Zallen DT, Calonge N, Ganiats TG, Janssens AC, Zauber A, Lansdorp-Vogelaar I, van Ballegooijen M, Whitlock EP
Genet Med 2015 Sep;17(9):702-12. Epub 2015 Jan 15 doi: 10.1038/gim.2014.188. PMID: 25590981Free PMC Article

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