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Chromosome 17 disorder

MedGen UID:
1380521
•Concept ID:
C4329664
•
Cell or Molecular Dysfunction
Synonym: Chromosome 17 abnormality
 
Monarch Initiative: MONDO:0020583

Definition

An irregularity in the structure of chromosome 17. [from NCI]

Professional guidelines

PubMed

Chronic lymphocytic leukemia: 2020 update on diagnosis, risk stratification and treatment.
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment.
Hallek M
Am J Hematol 2017 Sep;92(9):946-965. doi: 10.1002/ajh.24826. PMID: 28782884
Primary progressive aphasia.
Mesulam MM
Ann Neurol 2001 Apr;49(4):425-32. PMID: 11310619

Recent clinical studies

Etiology

Functional regulatory variants implicate distinct transcriptional networks in dementia.
Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Tau and tauopathies.
Robert M, Mathuranath PS
Neurol India 2007 Jan-Mar;55(1):11-6. doi: 10.4103/0028-3886.30420. PMID: 17272893
Charcot-Marie-Tooth syndrome.
Chance PF, Pleasure D
Arch Neurol 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. PMID: 8215977
Linkage of early-onset familial breast cancer to chromosome 17q21.
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC
Science 1990 Dec 21;250(4988):1684-9. doi: 10.1126/science.2270482. PMID: 2270482

Diagnosis

The complex karyotype and chronic lymphocytic leukemia: prognostic value and diagnostic recommendations.
Jondreville L, Krzisch D, Chapiro E, Nguyen-Khac F
Am J Hematol 2020 Nov;95(11):1361-1367. Epub 2020 Aug 28 doi: 10.1002/ajh.25956. PMID: 32777106
Present and future of personalized medicine in CLL.
Montserrat E, Bauman T, Delgado J
Best Pract Res Clin Haematol 2016 Mar;29(1):100-110. Epub 2016 Aug 12 doi: 10.1016/j.beha.2016.08.009. PMID: 27742064
Smith-Magenis syndrome.
Elsea SH, Girirajan S
Eur J Hum Genet 2008 Apr;16(4):412-21. Epub 2008 Jan 30 doi: 10.1038/sj.ejhg.5202009. PMID: 18231123
Charcot-Marie-Tooth disease type 1.
Malcolm S
J Med Genet 1992 Jan;29(1):3-4. doi: 10.1136/jmg.29.1.3. PMID: 1552540Free PMC Article
Linkage of early-onset familial breast cancer to chromosome 17q21.
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC
Science 1990 Dec 21;250(4988):1684-9. doi: 10.1126/science.2270482. PMID: 2270482

Therapy

17q12 microdeletion syndrome.
Bhargav VSLV, Venkatachari M, Arun Babu T
BMJ Case Rep 2024 Nov 7;17(11) doi: 10.1136/bcr-2024-262697. PMID: 39510608
Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures.
Hallek M, Al-Sawaf O
Am J Hematol 2021 Dec 1;96(12):1679-1705. doi: 10.1002/ajh.26367. PMID: 34625994
Dissecting the biological heterogeneity of HER2-positive breast cancer.
Schettini F, Prat A
Breast 2021 Oct;59:339-350. Epub 2021 Aug 5 doi: 10.1016/j.breast.2021.07.019. PMID: 34392185Free PMC Article
Chronic lymphocytic leukemia: 2020 update on diagnosis, risk stratification and treatment.
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Altered retinoic acid receptors.
de Thé H
FASEB J 1996 Jul;10(9):955-60. doi: 10.1096/fasebj.10.9.8801177. PMID: 8801177

Prognosis

Functional regulatory variants implicate distinct transcriptional networks in dementia.
Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Present and future of personalized medicine in CLL.
Montserrat E, Bauman T, Delgado J
Best Pract Res Clin Haematol 2016 Mar;29(1):100-110. Epub 2016 Aug 12 doi: 10.1016/j.beha.2016.08.009. PMID: 27742064
Prognosis and therapy of chronic lymphocytic leukemia and small lymphocytic lymphoma.
Sun C, Wiestner A
Cancer Treat Res 2015;165:147-75. doi: 10.1007/978-3-319-13150-4_6. PMID: 25655609
Hereditary ovarian carcinoma.
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Clinical prediction guides

Functional regulatory variants implicate distinct transcriptional networks in dementia.
Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
The complex karyotype and chronic lymphocytic leukemia: prognostic value and diagnostic recommendations.
Jondreville L, Krzisch D, Chapiro E, Nguyen-Khac F
Am J Hematol 2020 Nov;95(11):1361-1367. Epub 2020 Aug 28 doi: 10.1002/ajh.25956. PMID: 32777106
Neurofibromatosis type 1.
Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H
Genet Couns 1994;5(3):225-41. PMID: 7811422
Linkage of early-onset familial breast cancer to chromosome 17q21.
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC
Science 1990 Dec 21;250(4988):1684-9. doi: 10.1126/science.2270482. PMID: 2270482
Autism, mental retardation, and chromosomal abnormalities.
Mariner R, Jackson AW 3rd, Levitas A, Hagerman RJ, Braden M, McBogg PM, Smith AC, Berry R
J Autism Dev Disord 1986 Dec;16(4):425-40. doi: 10.1007/BF01531709. PMID: 3542957

Recent systematic reviews

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.
Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A
Alzheimers Res Ther 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2. PMID: 29370822Free PMC Article
A meta-analysis of the associations between the SLC6A4 promoter polymorphism (5HTTLPR) and the risk for alcohol dependence.
Villalba K, Attonito J, Mendy A, Devieux JG, Gasana J, Dorak TM
Psychiatr Genet 2015 Apr;25(2):47-58. doi: 10.1097/YPG.0000000000000078. PMID: 25710844
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K, Kikuchi M, Tokutake T, Nakaya A, Tezuka T, Tsukie T, Hara N, Miyashita A, Kuwano R, Ikeuchi T
J Hum Genet 2015 May;60(5):281-3. Epub 2015 Feb 19 doi: 10.1038/jhg.2015.15. PMID: 25694106Free PMC Article
Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1β gene and prostate cancer: a systematic review and meta-analysis.
Xiang YZ, Jiang SB, Zhao J, Xiong H, Cui ZL, Li GB, Jin XB
Genet Mol Res 2014 Aug 28;13(3):6582-92. doi: 10.4238/2014.August.28.3. PMID: 25177939

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