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Hereditary cancer-predisposing syndrome

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
Synonyms: Cancer predisposition; Hereditary Cancer Syndrome; Neoplastic Syndromes, Hereditary; PALB2-Related Cancer Susceptibility; Tumor predisposition
SNOMED CT: Hereditary neoplastic syndrome (699346009); Hereditary cancer-predisposing syndrome (699346009)
 
Gene (location): PALB2 (16p12.2)
 
Orphanet: ORPHA140162

Definition

An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary cancer-predisposing syndrome

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group.
Hum Mutat 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. PMID: 18951446Free PMC Article

Recent clinical studies

Etiology

Lepore Signorile M, Disciglio V, Di Carlo G, Pisani A, Simone C, Ingravallo G
Int J Mol Sci 2021 Jun 23;22(13) doi: 10.3390/ijms22136767. PMID: 34201893Free PMC Article
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article
Lynch HT, Tinley ST, Lynch JF, Attard TM
Cancer Genet Cytogenet 2004 Sep;153(2):91-101. doi: 10.1016/j.cancergencyto.2004.01.011. PMID: 15350297

Diagnosis

Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article
Lynch HT, Tinley ST, Lynch JF, Attard TM
Cancer Genet Cytogenet 2004 Sep;153(2):91-101. doi: 10.1016/j.cancergencyto.2004.01.011. PMID: 15350297

Prognosis

Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
Nithya P, ChandraSekar A
J Med Syst 2019 Jul 5;43(8):270. doi: 10.1007/s10916-019-1328-z. PMID: 31278556
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article

Clinical prediction guides

Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM
BMC Cancer 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. PMID: 33827469Free PMC Article
Nithya P, ChandraSekar A
J Med Syst 2019 Jul 5;43(8):270. doi: 10.1007/s10916-019-1328-z. PMID: 31278556
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA
Comput Biol Chem 2019 Jun;80:31-45. Epub 2019 Mar 12 doi: 10.1016/j.compbiolchem.2019.03.004. PMID: 30884445
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B
BMC Med Genet 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. PMID: 29720104Free PMC Article

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