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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

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
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
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
A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity.
Warden G, Harnett D, Green J, Wish T, Woods MO, Green R, Dicks E, Rahman P, Zhai G, Parfrey P
Clin Genet 2013 Dec;84(6):522-30. Epub 2013 Feb 7 doi: 10.1111/cge.12080. PMID: 23278430

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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      Clinical tests in GTR
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      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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