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Large-Scale State Transition

MedGen UID:
890368
•Concept ID:
C4054667
•
Cell or Molecular Dysfunction
Synonyms: Large Scale State Transition; LST

Definition

Chromosomal breakage that generates 10 Mb or larger fragments. The quantification of these breaks can be used as a surrogate measure for genomic instability, which may be caused by mutation of DNA repair genes, including BRCA1 or BRCA2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLarge-Scale State Transition

Professional guidelines

PubMed

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM
Clin Cancer Res 2020 Jul 1;26(13):3239-3247. Epub 2020 May 22 doi: 10.1158/1078-0432.CCR-20-0418. PMID: 32444418Free PMC Article

Recent clinical studies

Etiology

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM
Clin Cancer Res 2020 Jul 1;26(13):3239-3247. Epub 2020 May 22 doi: 10.1158/1078-0432.CCR-20-0418. PMID: 32444418Free PMC Article

Diagnosis

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM
Clin Cancer Res 2020 Jul 1;26(13):3239-3247. Epub 2020 May 22 doi: 10.1158/1078-0432.CCR-20-0418. PMID: 32444418Free PMC Article

Prognosis

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM
Clin Cancer Res 2020 Jul 1;26(13):3239-3247. Epub 2020 May 22 doi: 10.1158/1078-0432.CCR-20-0418. PMID: 32444418Free PMC Article
Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes.
Timms KM, Abkevich V, Hughes E, Neff C, Reid J, Morris B, Kalva S, Potter J, Tran TV, Chen J, Iliev D, Sangale Z, Tikishvili E, Perry M, Zharkikh A, Gutin A, Lanchbury JS
Breast Cancer Res 2014 Dec 5;16(6):475. doi: 10.1186/s13058-014-0475-x. PMID: 25475740Free PMC Article

Clinical prediction guides

Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor.
Ball M, Ourailidis I, Kluck K, Menzel M, Kirchner M, Allgäuer M, Tay TKY, Schnecko F, Volckmar AL, Goldschmid H, Neuman O, Fröhling S, Schirmacher P, Budczies J, Stenzinger A, Kazdal D
J Mol Diagn 2024 Jun;26(6):479-486. Epub 2024 Mar 22 doi: 10.1016/j.jmoldx.2024.02.008. PMID: 38522840
Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE1 and BRD4 genes in non-BRCAness high grade ovarian carcinoma.
Goundiam O, Gestraud P, Popova T, De la Motte Rouge T, Fourchotte V, Gentien D, Hupé P, Becette V, Houdayer C, Roman-Roman S, Stern MH, Sastre-Garau X
Int J Cancer 2015 Oct 15;137(8):1890-900. Epub 2015 Apr 29 doi: 10.1002/ijc.29568. PMID: 25892415
Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes.
Timms KM, Abkevich V, Hughes E, Neff C, Reid J, Morris B, Kalva S, Potter J, Tran TV, Chen J, Iliev D, Sangale Z, Tikishvili E, Perry M, Zharkikh A, Gutin A, Lanchbury JS
Breast Cancer Res 2014 Dec 5;16(6):475. doi: 10.1186/s13058-014-0475-x. PMID: 25475740Free PMC Article

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