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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
870541
•Concept ID:
C4024989
•
Neoplastic Process
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
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
Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.
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
Current Approaches to Germline Cancer Genetic Testing.
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

Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.
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
Update on genetic predisposition to colorectal cancer and polyposis.
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
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
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
Improving performance of multigene panels for genomic analysis of cancer predisposition.
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
Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland.
Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K
N Engl J Med 2000 Jul 13;343(2):78-85. doi: 10.1056/NEJM200007133430201. PMID: 10891514

Diagnosis

Hereditary Colorectal Cancer.
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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
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
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
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
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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

Therapy

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
Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis.
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
Alcohol consumption, DNA methylation and colorectal cancer risk: Results from pooled cohort studies and Mendelian randomization analysis.
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
Diabetes and cancer risk: A Mendelian randomization study.
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
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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

Diabetes and cancer risk: A Mendelian randomization study.
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
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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
Improving performance of multigene panels for genomic analysis of cancer predisposition.
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
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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

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
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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
Improving performance of multigene panels for genomic analysis of cancer predisposition.
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
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
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
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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

Special features of sarcomas developed in patients with Lynch syndrome: A systematic review.
Poumeaud F, Valentin T, Vande Perre P, Jaffrelot M, Bonnet D, Chibon F, Chevreau C, Selves J, Guimbaud R, Fares N
Crit Rev Oncol Hematol 2023 Aug;188:104055. Epub 2023 Jun 8 doi: 10.1016/j.critrevonc.2023.104055. PMID: 37301271
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.
Dixon P, Keeney E, Taylor JC, Wordsworth S, Martin RM
Genet Med 2022 Aug;24(8):1604-1617. Epub 2022 May 16 doi: 10.1016/j.gim.2022.04.020. PMID: 35575786Free 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
Risk of colorectal cancer with hysterectomy and oophorectomy: A systematic review and meta-analysis.
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
Family history and the natural history of colorectal cancer: systematic review.
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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