Details of Disease

General Information of Disease (ID: DISUM7ID)

• Disease Name: Breast fibrocystic disease
• Synonyms: fibrocystic change of breast; fibrocystic breast changes; benign breast disease; breast fibrocystic change; fibrocystic breast disease; cystic disease of breast; fibrocystic change of the breast; fibrocystic disease of breast; diffuse cystic mastopathy; fibrocystic disease; fibrocystic mastopathy; fibrocystic breast; cystic disease of the breast; fibrocystic disease of the breast; mammary dysplasia
• Definition: Fibrosis associated with cyst formation in the breast parenchyma.|Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic
• Disease Hierarchy:
  DISJTGMA: Breast disorder
  DISUM7ID: Breast fibrocystic disease
• Disease Identifiers:
  MONDO ID: MONDO_0005219
  MESH ID: D005348
  UMLS CUI: C0016034
  MedGen ID: 42015
  SNOMED CT ID: 27431007

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Danazol	DML8KTN	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	TTSYVO6	Limited	Genetic Variation	[2]
HSD17B1	TTIWB6L	Limited	Genetic Variation	[2]
CEACAM5	TTY6DTE	moderate	Biomarker	[3]
CEACAM3	TTPX7I5	Strong	Biomarker	[3]
HNMT	TT2B6EV	Strong	Biomarker	[4]
POLB	TTA0XPV	Strong	Biomarker	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A7	DT03V27	Strong	Genetic Variation	[6]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GFRA1	OT3WBVYB	Limited	Altered Expression	[7]
SDC3	OT1P0LJM	Limited	Biomarker	[7]
AKIP1	OT7XPG27	Strong	Biomarker	[8]
CEACAM7	OTKFDTZY	Strong	Biomarker	[3]
CRLS1	OT7XNL0K	Strong	Biomarker	[9]
DERL2	OTI3TUUZ	Strong	Biomarker	[10]
INSL3	OT7KUNTE	Strong	Biomarker	[11]
LPCAT1	OTCV7AGV	Strong	Altered Expression	[12]
NBPF1	OTAZ55UQ	Strong	Genetic Variation	[13]
ND5	OT45LW1K	Strong	Genetic Variation	[14]
OTUD4	OT7U62SW	Strong	Biomarker	[15]
PIP	OTH719AH	Strong	Biomarker	[16]
PPP6R3	OTIXD60Q	Strong	Altered Expression	[17]
PSG2	OT2EIXAI	Strong	Biomarker	[3]
SCGB3A1	OTIR98RB	Strong	Biomarker	[15]
SORBS2	OTJSX44Y	Strong	Biomarker	[18]
TOX3	OTC9NR4W	Strong	Genetic Variation	[6]

References

• [1] Danazol FDA Label
• [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] The association of five preoperative serum tumor markers and pathological features in patients with breast cancer.J Clin Lab Anal. 2019 Jun;33(5):e22875. doi: 10.1002/jcla.22875. Epub 2019 Mar 6.
• [4] Complete loss of wild-type TP53 in a nontransformed human epithelial cell line is preceded by a phase during which a heterozygous TP53 mutant effectively outgrows the homozygous wild-type cells.Cancer Genet Cytogenet. 2000 Jan 1;116(1):28-34. doi: 10.1016/s0165-4608(99)00112-0.
• [5] Alteration of hMSH2 and DNA polymerase beta genes in breast carcinomas and fibroadenomas.Biochem Biophys Res Commun. 1999 Jun 7;259(2):429-35. doi: 10.1006/bbrc.1999.0791.
• [6] Genetic and environmental factors and serum hormones, and risk of estrogen receptor-positive breast cancer in pre- and postmenopausal Japanese women.Oncotarget. 2017 Aug 11;8(39):65759-65769. doi: 10.18632/oncotarget.20182. eCollection 2017 Sep 12.
• [7] Prognostic significance of the expression of GFR1, GFR3 and syndecan-3, proteins binding ARTEMIN, in mammary carcinoma.BMC Cancer. 2013 Jan 26;13:34. doi: 10.1186/1471-2407-13-34.
• [8] Peripheral blood lymphocytes from patients with cancer lack interleukin-2 receptors.Cancer. 1988 Feb 15;61(4):689-701. doi: 10.1002/1097-0142(19880215)61:4<689::aid-cncr2820610412>3.0.co;2-o.
• [9] Macrophagic "Crown-like Structures" Are Associated with an Increased Risk of Breast Cancer in Benign Breast Disease.Cancer Prev Res (Phila). 2018 Feb;11(2):113-119. doi: 10.1158/1940-6207.CAPR-17-0245. Epub 2017 Nov 22.
• [10] Functional Phe31Ile polymorphism in Aurora A and risk of breast carcinoma.Carcinogenesis. 2004 Nov;25(11):2225-30. doi: 10.1093/carcin/bgh244. Epub 2004 Jul 22.
• [11] Relaxin-like factor (RLF) is differentially expressed in the normal and neoplastic human mammary gland.Cancer. 2000 Dec 1;89(11):2161-8.
• [12] Lysophosphatidylcholine acyltransferase 1 (LPCAT1) upregulation in breast carcinoma contributes to tumor progression and predicts early tumor recurrence.Tumour Biol. 2015 Jul;36(7):5473-83. doi: 10.1007/s13277-015-3214-8. Epub 2015 Feb 16.
• [13] Methylation of NBPF1 as a novel marker for the detection of plasma cell-free DNA of breast cancer patients.Clin Chim Acta. 2018 Sep;484:81-86. doi: 10.1016/j.cca.2018.05.030. Epub 2018 May 15.
• [14] Evaluating mitochondrial DNA in patients with breast cancer and benign breast disease.J Cancer Res Clin Oncol. 2011 Apr;137(4):669-75. doi: 10.1007/s00432-010-0912-x. Epub 2010 Jun 16.
• [15] Modulation of gene methylation by genistein or lycopene in breast cancer cells.Environ Mol Mutagen. 2008 Jan;49(1):36-45. doi: 10.1002/em.20363.
• [16] PIP/GCDFP-15 gene expression and apocrine differentiation in carcinomas of the breast.Virchows Arch. 1994;425(5):459-65. doi: 10.1007/BF00197548.
• [17] Protein phosphatase PP6 is required for homology-directed repair of DNA double-strand breaks.Cell Cycle. 2011 May 1;10(9):1411-9. doi: 10.4161/cc.10.9.15479. Epub 2011 May 1.
• [18] NanoString-based breast cancer risk prediction for women with sclerosing adenosis.Breast Cancer Res Treat. 2017 Nov;166(2):641-650. doi: 10.1007/s10549-017-4441-z. Epub 2017 Aug 10.