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Hereditary Colorectal Cancer Syndrome

MedGen UID:
1712465
•Concept ID:
C5237209
•
Neoplastic Process

Definition

A group of hereditary neoplastic syndromes that affect the colon and rectum. Included in this grouping are hereditary nonpolyposis colorectal cancer (HNPCCC) , familial adenomatous polyposis (FAP), and the hamartomatous polyposis syndromes. [from NCI]

Professional guidelines

PubMed

Management of Colorectal Cancer in Hereditary Syndromes.
Cunningham LA, Gasior A, Kalady MF
Surg Oncol Clin N Am 2022 Apr;31(2):307-319. Epub 2022 Mar 9 doi: 10.1016/j.soc.2021.11.010. PMID: 35351280
Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Nallamilli BRR, Hegde M
Curr Protoc Hum Genet 2017 Jul 11;94:10.12.1-10.12.23. doi: 10.1002/cphg.40. PMID: 28696559
Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.
Weissman SM, Bellcross C, Bittner CC, Freivogel ME, Haidle JL, Kaurah P, Leininger A, Palaniappan S, Steenblock K, Vu TM, Daniels MS
J Genet Couns 2011 Feb;20(1):5-19. Epub 2010 Oct 8 doi: 10.1007/s10897-010-9325-x. PMID: 20931355

Recent clinical studies

Etiology

Contemporary surgical management of colorectal cancer in Lynch syndrome.
Abbass MA, Church J
J Surg Oncol 2023 Jun;127(8):1259-1263. doi: 10.1002/jso.27318. PMID: 37222690
Cost-effectiveness of artificial intelligence for screening colonoscopy: a modelling study.
Areia M, Mori Y, Correale L, Repici A, Bretthauer M, Sharma P, Taveira F, Spadaccini M, Antonelli G, Ebigbo A, Kudo SE, Arribas J, Barua I, Kaminski MF, Messmann H, Rex DK, Dinis-Ribeiro M, Hassan C
Lancet Digit Health 2022 Jun;4(6):e436-e444. Epub 2022 Apr 13 doi: 10.1016/S2589-7500(22)00042-5. PMID: 35430151
Management of Colorectal Cancer in Hereditary Syndromes.
Cunningham LA, Gasior A, Kalady MF
Surg Oncol Clin N Am 2022 Apr;31(2):307-319. Epub 2022 Mar 9 doi: 10.1016/j.soc.2021.11.010. PMID: 35351280
Identification of Lynch Syndrome.
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
Chemoprevention in familial adenomatous polyposis: past, present and future.
Kemp Bohan PM, Mankaney G, Vreeland TJ, Chick RC, Hale DF, Cindass JL, Hickerson AT, Ensley DC, Sohn V, Clifton GT, Peoples GE, Burke CA
Fam Cancer 2021 Jan;20(1):23-33. Epub 2020 Jun 8 doi: 10.1007/s10689-020-00189-y. PMID: 32507936Free PMC Article

Diagnosis

Cost-effectiveness of artificial intelligence for screening colonoscopy: a modelling study.
Areia M, Mori Y, Correale L, Repici A, Bretthauer M, Sharma P, Taveira F, Spadaccini M, Antonelli G, Ebigbo A, Kudo SE, Arribas J, Barua I, Kaminski MF, Messmann H, Rex DK, Dinis-Ribeiro M, Hassan C
Lancet Digit Health 2022 Jun;4(6):e436-e444. Epub 2022 Apr 13 doi: 10.1016/S2589-7500(22)00042-5. PMID: 35430151
Management of Colorectal Cancer in Hereditary Syndromes.
Cunningham LA, Gasior A, Kalady MF
Surg Oncol Clin N Am 2022 Apr;31(2):307-319. Epub 2022 Mar 9 doi: 10.1016/j.soc.2021.11.010. PMID: 35351280
Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.
Long JM, Powers JM, Katona BW
Gastrointest Endosc Clin N Am 2022 Jan;32(1):95-112. doi: 10.1016/j.giec.2021.08.003. PMID: 34798989Free PMC Article
Identification of Lynch Syndrome.
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
Review article: Detection and management of hereditary non-polyposis colorectal cancer (Lynch syndrome).
Ramsoekh D, Van Leerdam ME, Wagner A, Kuipers EJ
Aliment Pharmacol Ther 2007 Dec;26 Suppl 2:101-11. doi: 10.1111/j.1365-2036.2007.03492.x. PMID: 18081654

Therapy

Combination of Sulindac and Bexarotene for Prevention of Intestinal Carcinogenesis in Familial Adenomatous Polyposis.
Bowen CM, Walter L, Borras E, Wu W, Ozcan Z, Chang K, Bommi PV, Taggart MW, Thirumurthi S, Lynch PM, Reyes-Uribe L, Scheet PA, Sinha KM, Vilar E
Cancer Prev Res (Phila) 2021 Sep;14(9):851-862. Epub 2021 Jul 15 doi: 10.1158/1940-6207.CAPR-20-0496. PMID: 34266857Free PMC Article
Chemoprevention in familial adenomatous polyposis: past, present and future.
Kemp Bohan PM, Mankaney G, Vreeland TJ, Chick RC, Hale DF, Cindass JL, Hickerson AT, Ensley DC, Sohn V, Clifton GT, Peoples GE, Burke CA
Fam Cancer 2021 Jan;20(1):23-33. Epub 2020 Jun 8 doi: 10.1007/s10689-020-00189-y. PMID: 32507936Free PMC Article
Recognition and management of hereditary colorectal cancer syndromes.
Herráiz M, Muñoz-Navas M
Rev Esp Enferm Dig 2009 Feb;101(2):125-32. doi: 10.4321/s1130-01082009000200006. PMID: 19335048

Prognosis

Identification of Lynch Syndrome.
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
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.
de Paula AE, Galvão HCR, Bonatelli M, Sabato C, Fernandes GC, Berardinelli GN, Andrade CEM, Neto MC, Romagnolo LGC, Campacci N, Scapulatempo-Neto C, Reis RM, Palmero EI
Cancer Genet 2021 Jun;254-255:82-91. Epub 2021 Feb 14 doi: 10.1016/j.cancergen.2021.02.003. PMID: 33647816
Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans.
Lee SY, Kim DW, Shin YK, Ihn MH, Lee SM, Oh HK, Ku JL, Jeong SY, Lee JB, Ahn S, Won S, Kang SB
Cancer Res Treat 2016 Apr;48(2):668-75. Epub 2015 Jun 5 doi: 10.4143/crt.2014.288. PMID: 26044159Free PMC Article
Young age of onset colorectal cancers.
Liang J, Kalady MF, Church J
Int J Colorectal Dis 2015 Dec;30(12):1653-7. Epub 2015 Sep 11 doi: 10.1007/s00384-015-2341-4. PMID: 26358068
Psychosocial Impact of Lynch Syndrome on Affected Individuals and Families.
Galiatsatos P, Rothenmund H, Aubin S, Foulkes WD
Dig Dis Sci 2015 Aug;60(8):2246-50. Epub 2015 Mar 19 doi: 10.1007/s10620-015-3626-8. PMID: 25786861

Clinical prediction guides

Identification of Lynch Syndrome.
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
Combination of Sulindac and Bexarotene for Prevention of Intestinal Carcinogenesis in Familial Adenomatous Polyposis.
Bowen CM, Walter L, Borras E, Wu W, Ozcan Z, Chang K, Bommi PV, Taggart MW, Thirumurthi S, Lynch PM, Reyes-Uribe L, Scheet PA, Sinha KM, Vilar E
Cancer Prev Res (Phila) 2021 Sep;14(9):851-862. Epub 2021 Jul 15 doi: 10.1158/1940-6207.CAPR-20-0496. PMID: 34266857Free PMC Article
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.
de Paula AE, Galvão HCR, Bonatelli M, Sabato C, Fernandes GC, Berardinelli GN, Andrade CEM, Neto MC, Romagnolo LGC, Campacci N, Scapulatempo-Neto C, Reis RM, Palmero EI
Cancer Genet 2021 Jun;254-255:82-91. Epub 2021 Feb 14 doi: 10.1016/j.cancergen.2021.02.003. PMID: 33647816
Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans.
Lee SY, Kim DW, Shin YK, Ihn MH, Lee SM, Oh HK, Ku JL, Jeong SY, Lee JB, Ahn S, Won S, Kang SB
Cancer Res Treat 2016 Apr;48(2):668-75. Epub 2015 Jun 5 doi: 10.4143/crt.2014.288. PMID: 26044159Free PMC Article
Psychosocial Impact of Lynch Syndrome on Affected Individuals and Families.
Galiatsatos P, Rothenmund H, Aubin S, Foulkes WD
Dig Dis Sci 2015 Aug;60(8):2246-50. Epub 2015 Mar 19 doi: 10.1007/s10620-015-3626-8. PMID: 25786861

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