Details of Disease

General Information of Disease (ID: DISJTGMA)

• Disease Name: Breast disorder
• Synonyms: disorder of breast; disease or disorder of breast; disease of breast; breast disorder; breast diseases; breast disease or disorder; breast disease
• Definition: A disease involving the breast.
• Disease Hierarchy:
  DISH7H5I: Human disease
  DISJTGMA: Breast disorder
• Disease Identifiers:
  MONDO ID: MONDO_0002657
  MESH ID: D001941
  UMLS CUI: C0006145
  MedGen ID: 652
  SNOMED CT ID: 79604008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BACH1	TT2ME4S	Limited	Genetic Variation	[1]
HSD17B1	TTIWB6L	Limited	Genetic Variation	[2]
PGC	TT7K6AD	Limited	Biomarker	[3]
FOSL1	TTY8LZG	Strong	Altered Expression	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A2	DTIAF6C	Limited	Genetic Variation	[5]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRMS1	OTV5A6LL	Limited	Altered Expression	[6]
NAA10	OTYB9R6I	Limited	Biomarker	[7]
NMU	OTW9X7BQ	Limited	Biomarker	[8]
PALB2	OT6DNDBG	Limited	Genetic Variation	[9]
PPP1R8	OTH5KB2P	Limited	Biomarker	[7]
TRIM23	OTVIGJ4T	Limited	Biomarker	[7]
MT3	OTVCZ7HI	Strong	Biomarker	[10]
PIWIL2	OT1PXQIF	Strong	Altered Expression	[11]
SEMA3C	OTEGUY7F	Strong	Altered Expression	[12]
TP63	OT0WOOKQ	Strong	Biomarker	[13]

References

• [1] Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.Breast Cancer Res Treat. 2009 May;115(1):51-5. doi: 10.1007/s10549-008-0052-z. Epub 2008 May 16.
• [2] Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women.Cancer Epidemiol Biomarkers Prev. 2008 May;17(5):1066-73. doi: 10.1158/1055-9965.EPI-07-2680.
• [3] Isolation and characterization of a pepsin C zymogen produced by human breast tissues.J Biol Chem. 1992 Dec 5;267(34):24725-31.
• [4] FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders.BMC Cancer. 2007 Jan 25;7:17. doi: 10.1186/1471-2407-7-17.
• [5] Functional analysis of two single nucleotide polymorphisms in SLC30A2 (ZnT2): implications for mammary gland function and breast disease in women.Physiol Genomics. 2010 Nov 29;42A(4):219-27. doi: 10.1152/physiolgenomics.00137.2010. Epub 2010 Sep 21.
• [6] Multiple forms of BRMS1 are differentially expressed in the MCF10 isogenic breast cancer progression model.Clin Exp Metastasis. 2009;26(2):89-96. doi: 10.1007/s10585-008-9216-9. Epub 2008 Oct 8.
• [7] Up-regulation of human arrest-defective 1 protein is correlated with metastatic phenotype and poor prognosis in breast cancer.Asian Pac J Cancer Prev. 2011;12(8):1973-7.
• [8] Gene expression profiling of NMU-induced rat mammary tumors: cross species comparison with human breast cancer.Carcinogenesis. 2005 Aug;26(8):1343-53. doi: 10.1093/carcin/bgi100. Epub 2005 Apr 21.
• [9] The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.Breast Cancer Res Treat. 2009 Apr;114(3):457-62. doi: 10.1007/s10549-008-0036-z. Epub 2008 Apr 30.
• [10] Expression of metallothionein3 in ductal breast cancer.Int J Oncol. 2016 Dec;49(6):2487-2497. doi: 10.3892/ijo.2016.3759. Epub 2016 Nov 4.
• [11] Aberrant Expression of PIWIL1 and PIWIL2 and Their Clinical Significance in Ductal Breast Carcinoma.Anticancer Res. 2018 Apr;38(4):2021-2030. doi: 10.21873/anticanres.12441.
• [12] The relationship between semaphorin 3C and microvessel density in the progression of breast and oral neoplasia.Exp Mol Pathol. 2015 Aug;99(1):19-24. doi: 10.1016/j.yexmp.2015.03.041. Epub 2015 Apr 21.
• [13] p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17.