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DNA Repair-Deficiency Disorders

MedGen UID:
327583
•Concept ID:
C1563696
•
Disease or Syndrome
Synonyms: Disorder, DNA Repair-Deficiency; Disorders, DNA Repair-Deficiency; DNA Repair Deficiency Disorders; DNA Repair-Deficiency Disorder

Definition

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDNA Repair-Deficiency Disorders

Professional guidelines

PubMed

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):539-546. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.022. PMID: 36456361Free PMC Article
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group
Dev Med Child Neurol 2017 Jul;59(7):680-689. Epub 2017 Mar 20 doi: 10.1111/dmcn.13424. PMID: 28318010
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Recent clinical studies

Etiology

Emerging hyperthermia applications for pediatric oncology.
Tydings C, Sharma KV, Kim A, Yarmolenko PS
Adv Drug Deliv Rev 2020;163-164:157-167. Epub 2020 Oct 24 doi: 10.1016/j.addr.2020.10.016. PMID: 33203538
Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Patients With Pancreatic Ductal Adenocarcinoma.
Cloyd JM, Katz MHG, Wang H, Cuddy A, You YN
JAMA Surg 2017 Nov 1;152(11):1086-1088. doi: 10.1001/jamasurg.2017.2631. PMID: 28793134Free PMC Article
Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
Giordano CN, Yew YW, Spivak G, Lim HW
J Am Acad Dermatol 2016 Nov;75(5):855-870. doi: 10.1016/j.jaad.2016.03.045. PMID: 27745641
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508
Hereditary photodermatoses.
Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Diagnosis

Chromosome instability syndromes.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS
Nat Rev Dis Primers 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. PMID: 31537806Free PMC Article
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA
Clin Cancer Res 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. PMID: 28572264Free PMC Article
Evaluation of a patient with hyper-IgM syndrome.
Uygungil B, Bonilla F, Lederman H
J Allergy Clin Immunol 2012 Jun;129(6):1692-3.e4. doi: 10.1016/j.jaci.2012.03.043. PMID: 22657410
Educational paper: syndromic forms of primary immunodeficiency.
Kersseboom R, Brooks A, Weemaes C
Eur J Pediatr 2011 Mar;170(3):295-308. Epub 2011 Feb 22 doi: 10.1007/s00431-011-1396-7. PMID: 21337117Free PMC Article
Hereditary photodermatoses.
Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Therapy

Emerging hyperthermia applications for pediatric oncology.
Tydings C, Sharma KV, Kim A, Yarmolenko PS
Adv Drug Deliv Rev 2020;163-164:157-167. Epub 2020 Oct 24 doi: 10.1016/j.addr.2020.10.016. PMID: 33203538
The DNA Repair Pathway as a Target for Novel Drugs in Gynecologic Cancers.
Lheureux S, Mirza M, Coleman R
J Clin Oncol 2019 Sep 20;37(27):2449-2459. Epub 2019 Aug 12 doi: 10.1200/JCO.19.00347. PMID: 31403862
Beyond PARP-POLθ as an anticancer target.
Higgins GS, Boulton SJ
Science 2018 Mar 16;359(6381):1217-1218. doi: 10.1126/science.aar5149. PMID: 29590065
DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.
Dhawan M, Ryan CJ, Ashworth A
Oncologist 2016 Aug;21(8):940-5. Epub 2016 Jun 17 doi: 10.1634/theoncologist.2016-0135. PMID: 27317574Free PMC Article
Hereditary photodermatoses.
Oh DH, Spivak G
Adv Exp Med Biol 2010;685:95-105. doi: 10.1007/978-1-4419-6448-9_9. PMID: 20687498

Prognosis

Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns.
Sørensen SG, Shrikhande A, Poulsgaard GA, Christensen MH, Bertl J, Laursen BE, Hoffmann ER, Pedersen JS
Elife 2023 Mar 8;12 doi: 10.7554/eLife.81224. PMID: 36883553Free PMC Article
The DNA Repair Pathway as a Target for Novel Drugs in Gynecologic Cancers.
Lheureux S, Mirza M, Coleman R
J Clin Oncol 2019 Sep 20;37(27):2449-2459. Epub 2019 Aug 12 doi: 10.1200/JCO.19.00347. PMID: 31403862
The resounding effect of DNA repair deficiency in prostate cancer.
Cheng HH
Urol Oncol 2018 Aug;36(8):385-388. Epub 2018 Mar 17 doi: 10.1016/j.urolonc.2018.02.014. PMID: 29555412Free PMC Article
Mismatch repair deficiency as a prognostic factor in mucinous colorectal cancer.
Andrici J, Farzin M, Sioson L, Clarkson A, Watson N, Toon CW, Gill AJ
Mod Pathol 2016 Mar;29(3):266-74. Epub 2016 Jan 15 doi: 10.1038/modpathol.2015.159. PMID: 26769140
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Clinical prediction guides

Pathological consequences of DNA damage in the kidney.
Garaycoechea JI, Quinlan C, Luijsterburg MS
Nat Rev Nephrol 2023 Apr;19(4):229-243. Epub 2023 Jan 26 doi: 10.1038/s41581-022-00671-z. PMID: 36702905
What is behind "centromere repositioning"?
Schubert I
Chromosoma 2018 Jun;127(2):229-234. Epub 2018 Apr 28 doi: 10.1007/s00412-018-0672-y. PMID: 29705818
The resounding effect of DNA repair deficiency in prostate cancer.
Cheng HH
Urol Oncol 2018 Aug;36(8):385-388. Epub 2018 Mar 17 doi: 10.1016/j.urolonc.2018.02.014. PMID: 29555412Free PMC Article
DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.
Dhawan M, Ryan CJ, Ashworth A
Oncologist 2016 Aug;21(8):940-5. Epub 2016 Jun 17 doi: 10.1634/theoncologist.2016-0135. PMID: 27317574Free PMC Article
DNA strand break repair and neurodegeneration.
Rulten SL, Caldecott KW
DNA Repair (Amst) 2013 Aug;12(8):558-67. Epub 2013 May 24 doi: 10.1016/j.dnarep.2013.04.008. PMID: 23712058

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