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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

Recent clinical studies

Etiology

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
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
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
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
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
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

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
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
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M
Cancer Epidemiol Biomarkers Prev 2019 Jun;28(6):1010-1014. Epub 2019 Mar 1 doi: 10.1158/1055-9965.EPI-18-0576. PMID: 30824524
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

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
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
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
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

Clinical prediction guides

Different surgical outcome and follow-up status between dMMR and pMMR colorectal cancer patients who fulfilled with Amsterdam-II criteria.
Sun CY, Chiang JM, Chen TC, Hung HY, You JF
World J Surg Oncol 2020 Aug 7;18(1):195. doi: 10.1186/s12957-020-01976-8. PMID: 32767993Free PMC Article
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
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
Microsatellite instability in cancer: what problems remain unanswered?
Oda S, Maehara Y, Sumiyoshi Y, Sugimachi K
Surgery 2002 Jan;131(1 Suppl):S55-62. doi: 10.1067/msy.2002.119305. PMID: 11821788

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

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    • Gene
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    • 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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