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Gain of Chromosome 7q

MedGen UID:
273365
•Concept ID:
C1517420
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGain of Chromosome 7q

Professional guidelines

PubMed

Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma.
Kim M, Lee SH, Kim J, Lee SE, Kim YJ, Min CK
Genes Chromosomes Cancer 2015 Jan;54(1):20-7. Epub 2014 Aug 21 doi: 10.1002/gcc.22213. PMID: 25145975
Molecular cytogenetic analysis of prostatic adenocarcinomas from screening studies : early cancers may contain aggressive genetic features.
Alers JC, Krijtenburg PJ, Vis AN, Hoedemaeker RF, Wildhagen MF, Hop WC, van Der Kwast TT, Schröder FH, Tanke HJ, van Dekken H
Am J Pathol 2001 Feb;158(2):399-406. doi: 10.1016/s0002-9440(10)63983-1. PMID: 11159178Free PMC Article

Recent clinical studies

Etiology

Integrated proteogenomic characterization of urothelial carcinoma of the bladder.
Xu N, Yao Z, Shang G, Ye D, Wang H, Zhang H, Qu Y, Xu F, Wang Y, Qin Z, Zhu J, Zhang F, Feng J, Tian S, Liu Y, Zhao J, Hou J, Guo J, Hou Y, Ding C
J Hematol Oncol 2022 Jun 3;15(1):76. doi: 10.1186/s13045-022-01291-7. PMID: 35659036Free PMC Article
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC
J Clin Invest 2017 May 1;127(5):1700-1713. Epub 2017 Mar 27 doi: 10.1172/JCI91913. PMID: 28346228Free PMC Article
Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas.
Middeldorp A, van Eijk R, Oosting J, Forte GI, van Puijenbroek M, van Nieuwenhuizen M, Corver WE, Ruano D, Caldes T, Wijnen J, Morreau H, van Wezel T
Int J Cancer 2012 Feb 15;130(4):837-46. Epub 2011 Jul 15 doi: 10.1002/ijc.26093. PMID: 21445971
Chromosomal abnormalities subdivide neuroepithelial tumors into clinically relevant groups.
Hirose Y, Yoshida K
Keio J Med 2006 Jun;55(2):52-8. doi: 10.2302/kjm.55.52. PMID: 16823260
Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.
Alvarez S, Cigudosa JC
Hematol Oncol 2005 Mar;23(1):18-25. doi: 10.1002/hon.744. PMID: 16142824

Diagnosis

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J
Leukemia 2018 May;32(5):1106-1115. Epub 2018 Feb 25 doi: 10.1038/s41375-018-0074-4. PMID: 29535429Free PMC Article
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT
Blood 2017 Apr 20;129(16):2266-2279. Epub 2017 Feb 15 doi: 10.1182/blood-2016-10-743302. PMID: 28202457Free PMC Article
Chromosomal abnormalities of adenocarcinoma of the pancreas: identifying early and late changes.
Kowalski J, Morsberger LA, Blackford A, Hawkins A, Yeo CJ, Hruban RH, Griffin CA
Cancer Genet Cytogenet 2007 Oct 1;178(1):26-35. doi: 10.1016/j.cancergencyto.2007.06.004. PMID: 17889705
Chromosomal abnormalities subdivide neuroepithelial tumors into clinically relevant groups.
Hirose Y, Yoshida K
Keio J Med 2006 Jun;55(2):52-8. doi: 10.2302/kjm.55.52. PMID: 16823260
Cytogenetic studies in prostate cancer: are we making progress?
Brothman AR
Cancer Genet Cytogenet 1997 May;95(1):116-21. doi: 10.1016/s0165-4608(96)00302-0. PMID: 9140461

Therapy

Genomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations.
Durham BH, Getta B, Dietrich S, Taylor J, Won H, Bogenberger JM, Scott S, Kim E, Chung YR, Chung SS, Hüllein J, Walther T, Wang L, Lu SX, Oakes CC, Tibes R, Haferlach T, Taylor BS, Tallman MS, Berger MF, Park JH, Zenz T, Abdel-Wahab O
Blood 2017 Oct 5;130(14):1644-1648. Epub 2017 Aug 11 doi: 10.1182/blood-2017-01-765107. PMID: 28801450Free PMC Article
Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.
Rochowski A, Olson SB, Alonzo TA, Gerbing RB, Lange BJ, Alter BP
Pediatr Blood Cancer 2012 Nov;59(5):922-4. Epub 2012 Apr 19 doi: 10.1002/pbc.24168. PMID: 22517793Free PMC Article
Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.
Alvarez S, Cigudosa JC
Hematol Oncol 2005 Mar;23(1):18-25. doi: 10.1002/hon.744. PMID: 16142824
Cytogenetic studies in prostate cancer: are we making progress?
Brothman AR
Cancer Genet Cytogenet 1997 May;95(1):116-21. doi: 10.1016/s0165-4608(96)00302-0. PMID: 9140461
Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.
Schnur RE, Herzberg AJ, Spinner N, Kant JA, Magnusson M, McDonald-McGinn D, Rehberg K, Honig PJ, Zackai EH
J Am Acad Dermatol 1993 Feb;28(2 Pt 2):364-70. PMID: 8436660

Prognosis

Integrated proteogenomic characterization of urothelial carcinoma of the bladder.
Xu N, Yao Z, Shang G, Ye D, Wang H, Zhang H, Qu Y, Xu F, Wang Y, Qin Z, Zhu J, Zhang F, Feng J, Tian S, Liu Y, Zhao J, Hou J, Guo J, Hou Y, Ding C
J Hematol Oncol 2022 Jun 3;15(1):76. doi: 10.1186/s13045-022-01291-7. PMID: 35659036Free PMC Article
Genomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations.
Durham BH, Getta B, Dietrich S, Taylor J, Won H, Bogenberger JM, Scott S, Kim E, Chung YR, Chung SS, Hüllein J, Walther T, Wang L, Lu SX, Oakes CC, Tibes R, Haferlach T, Taylor BS, Tallman MS, Berger MF, Park JH, Zenz T, Abdel-Wahab O
Blood 2017 Oct 5;130(14):1644-1648. Epub 2017 Aug 11 doi: 10.1182/blood-2017-01-765107. PMID: 28801450Free PMC Article
Single-copy gain of chromosome 1q is a negative prognostic marker in pediatric nonependymal, nonpilocytic gliomas.
Miwa T, Hirose Y, Sasaki H, Ezaki T, Yoshida K, Kawase T
Neurosurgery 2011 Jan;68(1):206-12. doi: 10.1227/NEU.0b013e3181fd2c2e. PMID: 21099717
Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.
Alvarez S, Cigudosa JC
Hematol Oncol 2005 Mar;23(1):18-25. doi: 10.1002/hon.744. PMID: 16142824
Genomic imbalances in human leukemia and lymphoma detected by comparative genomic hybridization (Review).
Gebhart E
Int J Oncol 2005 Sep;27(3):593-606. PMID: 16077907

Clinical prediction guides

Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas.
Middeldorp A, van Eijk R, Oosting J, Forte GI, van Puijenbroek M, van Nieuwenhuizen M, Corver WE, Ruano D, Caldes T, Wijnen J, Morreau H, van Wezel T
Int J Cancer 2012 Feb 15;130(4):837-46. Epub 2011 Jul 15 doi: 10.1002/ijc.26093. PMID: 21445971
Single-copy gain of chromosome 1q is a negative prognostic marker in pediatric nonependymal, nonpilocytic gliomas.
Miwa T, Hirose Y, Sasaki H, Ezaki T, Yoshida K, Kawase T
Neurosurgery 2011 Jan;68(1):206-12. doi: 10.1227/NEU.0b013e3181fd2c2e. PMID: 21099717
Chromosomal abnormalities of adenocarcinoma of the pancreas: identifying early and late changes.
Kowalski J, Morsberger LA, Blackford A, Hawkins A, Yeo CJ, Hruban RH, Griffin CA
Cancer Genet Cytogenet 2007 Oct 1;178(1):26-35. doi: 10.1016/j.cancergencyto.2007.06.004. PMID: 17889705
Gains, losses and complex karyotypes in myeloid disorders: a light at the end of the tunnel.
Alvarez S, Cigudosa JC
Hematol Oncol 2005 Mar;23(1):18-25. doi: 10.1002/hon.744. PMID: 16142824
Cytogenetics of breast cancer.
Geleick D, Müller H, Matter A, Torhorst J, Regenass U
Cancer Genet Cytogenet 1990 Jun;46(2):217-29. doi: 10.1016/0165-4608(90)90107-l. PMID: 2340493

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