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Colorectal cancer, hereditary nonpolyposis, type 6(HNPCC6)

MedGen UID:
348732
•Concept ID:
C1860896
•
Neoplastic Process
Synonyms: Colon cancer, hereditary nonpolyposis, type 6; Colon cancer, hereditary nonpolyposis, type 6, somatic
 
Gene (location): TGFBR2 (3p24.1)
 
Monarch Initiative: MONDO:0013695
OMIM®: 614331

Definition

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. [from MONDO]

Clinical features

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

Professional guidelines

PubMed

Somatic tumor testing implications for Lynch syndrome germline genetic testing.
Barrus K, Purington N, Chun N, Ladabaum U, Ford JM
Cancer Genet 2022 Jun;264-265:16-22. Epub 2022 Mar 5 doi: 10.1016/j.cancergen.2022.02.010. PMID: 35286930
Effective communication of molecular genetic test results to primary care providers.
Scheuner MT, Edelen MO, Hilborne LH, Lubin IM; RAND Molecular Genetic Test Report Advisory Board
Genet Med 2013 Jun;15(6):444-9. Epub 2012 Dec 6 doi: 10.1038/gim.2012.151. PMID: 23222660
An overview of uterine cancer and its management.
Carter J, Pather S
Expert Rev Anticancer Ther 2006 Jan;6(1):33-42. doi: 10.1586/14737140.6.1.33. PMID: 16375642

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024

UK NICE Guideline NG151, Colorectal cancer, 2021

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019

American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

Recent clinical studies

Etiology

Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
Benusiglio PR, Elder F, Touat M, Perrier A, Sanson M, Colas C, Guerrini-Rousseau L, Tran DT, Trabelsi N, Carpentier C, Marie Y, Adam C, Bernier M, Cazals-Hatem D, Mokhtari K, Tran S, Mathon B, Capelle L, Dhooge M, Idbaih A, Alentorn A, Houillier C, Dehais C, Hoang-Xuan K, Cuzzubbo S, Carpentier A, Duval A, Coulet F, Bielle F
JCO Precis Oncol 2023 May;7:e2200525. doi: 10.1200/PO.22.00525. PMID: 37262394
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
The identification of Lynch syndrome in Congolese colorectal cancer patients.
Poaty H, Aba Gandzion C, Soubeyran I, Gassaye D, Peko JF, Nkoua Bon JB, Gombé Mbalawa C
Bull Cancer 2017 Oct;104(10):831-839. Epub 2017 Oct 6 doi: 10.1016/j.bulcan.2017.08.005. PMID: 28988047
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M
Oncol Rep 2016 Nov;36(5):2823-2835. Epub 2016 Sep 1 doi: 10.3892/or.2016.5060. PMID: 27601186
Muir-Torre syndrome.
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766

Diagnosis

Mismatch Repair Deficiency and Lynch Syndrome Among Adult Patients With Glioma.
Benusiglio PR, Elder F, Touat M, Perrier A, Sanson M, Colas C, Guerrini-Rousseau L, Tran DT, Trabelsi N, Carpentier C, Marie Y, Adam C, Bernier M, Cazals-Hatem D, Mokhtari K, Tran S, Mathon B, Capelle L, Dhooge M, Idbaih A, Alentorn A, Houillier C, Dehais C, Hoang-Xuan K, Cuzzubbo S, Carpentier A, Duval A, Coulet F, Bielle F
JCO Precis Oncol 2023 May;7:e2200525. doi: 10.1200/PO.22.00525. PMID: 37262394
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
Muir-Torre syndrome.
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766
Invasive papillary adenocarcinoma of the colon.
Palazzo JP, Edmonston TB, Chaille-Arnold LM, Burkholder S
Hum Pathol 2002 Mar;33(3):372-5. doi: 10.1053/hupa.2002.32228. PMID: 11979380
The clinicopathological characteristics and outcome of patients with right colon cancer.
Tomoda H, Taketomi A, Baba H, Kohnoe S, Seo Y, Saito T
Oncol Rep 1998 Mar-Apr;5(2):481-3. PMID: 9468584

Therapy

Naproxen chemoprevention induces proliferation of cytotoxic lymphocytes in Lynch Syndrome colorectal mucosa.
Bowen CM, Deng N, Reyes-Uribe L, Parra ER, Rocha P, Solis LM, Wistuba II, Sepeda VO, Vornik L, Perloff M, Szabo E, Umar A, Sinha KM, Brown PH, Vilar E
Front Immunol 2023;14:1162669. Epub 2023 May 3 doi: 10.3389/fimmu.2023.1162669. PMID: 37207208Free PMC Article
Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED
Gynecol Oncol 2022 Aug;166(2):344-350. Epub 2022 Jun 9 doi: 10.1016/j.ygyno.2022.05.023. PMID: 35691755
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Eikenboom EL, van der Werf-'t Lam AS, Rodríguez-Girondo M, Van Asperen CJ, Dinjens WNM, Hofstra RMW, Van Leerdam ME, Morreau H, Spaander MCW, Wagner A, Nielsen M
Clin Gastroenterol Hepatol 2022 Mar;20(3):e496-e507. Epub 2021 Apr 19 doi: 10.1016/j.cgh.2021.04.021. PMID: 33887476
Spontaneous ileostomy closure.
Alyami MS, Lundberg PW, Cotte EG, Glehen OJ
Saudi Med J 2016 Jun;37(6):694-7. doi: 10.15537/Smj.2016.6.14560. PMID: 27279518Free PMC Article
An overview of uterine cancer and its management.
Carter J, Pather S
Expert Rev Anticancer Ther 2006 Jan;6(1):33-42. doi: 10.1586/14737140.6.1.33. PMID: 16375642

Prognosis

Ovarian cancer in Lynch syndrome; a systematic review.
Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
Hesson LB, Packham D, Kwok CT, Nunez AC, Ng B, Schmidt C, Fields M, Wong JW, Sloane MA, Ward RL
Hum Mutat 2015 Jun;36(6):622-30. Epub 2015 Apr 17 doi: 10.1002/humu.22785. PMID: 25762362Free PMC Article
Mucinous differentiation in colorectal cancer: molecular, histological and clinical aspects.
Debunne H, Ceelen W
Acta Chir Belg 2013 Nov-Dec;113(6):385-90. PMID: 24494463
Muir-Torre syndrome.
Ponti G, Ponz de Leon M
Lancet Oncol 2005 Dec;6(12):980-7. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766
Invasive papillary adenocarcinoma of the colon.
Palazzo JP, Edmonston TB, Chaille-Arnold LM, Burkholder S
Hum Pathol 2002 Mar;33(3):372-5. doi: 10.1053/hupa.2002.32228. PMID: 11979380

Clinical prediction guides

Impact of colonoscopic screening in Familial Colorectal Cancer Type X.
Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS
Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. PMID: 30300963Free PMC Article
Ovarian cancer in Lynch syndrome; a systematic review.
Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
Hesson LB, Packham D, Kwok CT, Nunez AC, Ng B, Schmidt C, Fields M, Wong JW, Sloane MA, Ward RL
Hum Mutat 2015 Jun;36(6):622-30. Epub 2015 Apr 17 doi: 10.1002/humu.22785. PMID: 25762362Free PMC Article
Clinical features and prognosis in colorectal cancer patients with different ethnicities in Northwest China.
Yusup A, Wang HJ, Rahmutula A, Sayim P, Zhao ZL, Zhang GQ
World J Gastroenterol 2013 Nov 7;19(41):7183-8. doi: 10.3748/wjg.v19.i41.7183. PMID: 24222964Free PMC Article
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.
Huth C, Kloor M, Voigt AY, Bozukova G, Evers C, Gaspar H, Tariverdian M, Schirmacher P, von Knebel Doeberitz M, Bläker H
Mod Pathol 2012 Jun;25(6):911-6. Epub 2012 Mar 2 doi: 10.1038/modpathol.2012.30. PMID: 22388758

Recent systematic reviews

Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Eikenboom EL, van der Werf-'t Lam AS, Rodríguez-Girondo M, Van Asperen CJ, Dinjens WNM, Hofstra RMW, Van Leerdam ME, Morreau H, Spaander MCW, Wagner A, Nielsen M
Clin Gastroenterol Hepatol 2022 Mar;20(3):e496-e507. Epub 2021 Apr 19 doi: 10.1016/j.cgh.2021.04.021. PMID: 33887476
Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
Risk-reduction surgery in pediatric surgical oncology: A perspective.
Sandoval JA, Fernandez-Pineda I, Malkan AD
J Pediatr Surg 2016 Apr;51(4):675-87. Epub 2016 Feb 3 doi: 10.1016/j.jpedsurg.2016.01.004. PMID: 26898681
Ovarian cancer in Lynch syndrome; a systematic review.
Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024
    • NICE, 2021
      UK NICE Guideline NG151, Colorectal cancer, 2021
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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