Details of Disease

General Information of Disease (ID: DISAEZT5)

Disease Name Hereditary breast carcinoma
Synonyms
breast cancer, familial Male; breast cancer, familial; breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation; breast cancer, male, susceptibility to, autosomal dominant, somatic mutation; familial cancer of breast; familial cancer of the breast; breast cancer, susceptibility to, autosomal dominant, somatic mutation; hereditary breast cancer; breast cancer, protection against, autosomal dominant, somatic mutation; breast cancer, somatic; breast cancer susceptibility, autosomal dominant, somatic mutation; familial breast cancer; hereditary breast carcinoma; breast cancer, lobular, somatic; breast cancer, invasive ductal, autosomal dominant, somatic mutation; familial breast carcinoma
Definition Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.|Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84
Disease Hierarchy
DISYKSRF: Genetic disease
DIS2UE88: Breast carcinoma
DISAEZT5: Hereditary breast carcinoma
Disease Identifiers
MONDO ID
MONDO_0016419
MESH ID
C562840
UMLS CUI
C0346153
MedGen ID
87542
Orphanet ID
227535
SNOMED CT ID
254843006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 66 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
XRCC2 OTJB2PV4 Refuted Autosomal dominant [1]
CHEK1 OTTTI622 No Known Autosomal dominant [1]
EPCAM OTHBZK5X Refuted Autosomal dominant [1]
GEN1 OT1XFQXF Refuted Autosomal dominant [1]
MLH1 OTG5XDD8 Refuted Autosomal dominant [1]
MRE11 OTGU8TZM Refuted Autosomal dominant [1]
MSH2 OT10H1AB Refuted Autosomal dominant [1]
NBN OT73B5MD Refuted Autosomal dominant [1]
PIK3CA OTTOMI8J Refuted Autosomal dominant [1]
RAD50 OTYMU9G1 Refuted Autosomal dominant [1]
RINT1 OTMO19ZD Refuted Autosomal dominant [1]
SLX4 OTF6236I Refuted Autosomal dominant [1]
BLM OTEJOAJX Limited Biomarker [20]
FANCD2 OTVEB5LF Limited Genetic Variation [21]
FANCI OTW8E3SC Limited Biomarker [15]
LHFPL6 OTY6LHJY Limited Biomarker [22]
LMO4 OT5NDCT9 Limited Biomarker [23]
MARCHF8 OTH7PNN2 Limited Genetic Variation [24]
MCPH1 OTYT3TT5 Limited Autosomal dominant [1]
MLXIP OT30UNI7 Limited Genetic Variation [24]
MTUS1 OTBPALMU Limited Genetic Variation [25]
MYLIP OTL0PFGV Limited Genetic Variation [24]
RAD51 OTNVWGC1 Limited Autosomal dominant [5]
RAD51D OTKOU5XN Limited Autosomal dominant [1]
MSH6 OT46FP09 Disputed Autosomal dominant [1]
MUTYH OTXTKI7Q Disputed Autosomal recessive [1]
PMS2 OTNLWTMI Disputed Autosomal dominant [1]
PPM1D OT8NLZ9D Disputed Autosomal dominant [5]
RAD51C OTUD6SY5 Disputed Autosomal dominant [1]
RECQL OTPCH3JH Disputed Autosomal dominant [1]
AATF OT1QOKLD moderate Genetic Variation [26]
ABRAXAS1 OT1K4J80 moderate Biomarker [27]
ARHGEF28 OT3F32IU moderate Genetic Variation [28]
BABAM1 OTCFPER6 moderate Genetic Variation [29]
CLSPN OTZZXNDK moderate Genetic Variation [30]
CT55 OTQC0H27 moderate Genetic Variation [31]
EMSY OTBQ3KQE moderate Genetic Variation [32]
FANCL OTJC7QPQ moderate Biomarker [33]
FOXD3 OTXYV6GO moderate Genetic Variation [15]
MAST1 OTEYFN5O moderate Genetic Variation [15]
PIF1 OTUHKKVP moderate Biomarker [34]
POLH OTN07WXU moderate Biomarker [15]
POLQ OTBHK0E6 moderate Genetic Variation [35]
RECQL5 OTVZMP1Q moderate Biomarker [36]
RHOBTB2 OT2DATFX moderate Genetic Variation [37]
SH3RF1 OT7MYGYO moderate Genetic Variation [38]
TLX1 OTVN0MNW moderate Biomarker [39]
TOX3 OTC9NR4W moderate Genetic Variation [40]
TPD52 OTPKSK43 moderate Altered Expression [41]
AKAP10 OTPNFTOU Strong Genetic Variation [42]
AKAP13 OTOZAR14 Strong Genetic Variation [42]
ARL11 OTF6UDDB Strong Genetic Variation [43]
BRAP OTB7BAFQ Strong Genetic Variation [3]
BRIP1 OT38QBD4 Strong Autosomal dominant [12]
COL11A2 OT3BQUBH Strong Biomarker [44]
FANCB OTMZTXB5 Strong Biomarker [45]
FANCM OTNJG99Z Strong Genetic Variation [46]
KLLN OTV3FPH0 Strong SusceptibilityMutation [47]
PTPRG OT9N2WOF Strong Genetic Variation [48]
RCC1 OT25AGMB Strong Genetic Variation [49]
TOPBP1 OT6UPZPD Strong Altered Expression [50]
ATM OTQVOHLT Definitive Autosomal dominant [1]
BARD1 OTTC0Z9Y Definitive Autosomal dominant [1]
CDH1 OTFJMXPM Definitive Autosomal dominant [5]
CHEK2 OT8ZPCNS Definitive Autosomal dominant [1]
PALB2 OT6DNDBG Definitive Autosomal dominant [1]
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⏷ Show the Full List of 66 DOT(s)
This Disease Is Related to 28 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHEK1 TTTU902 No Known Autosomal dominant [1]
EPCAM TTZ8WH4 Refuted Autosomal dominant [1]
MLH1 TTISG27 Refuted Autosomal dominant [1]
MSH2 TTCAWRT Refuted Autosomal dominant [1]
PIK3CA TTEUNMR Refuted Autosomal dominant [1]
BACH1 TT2ME4S Limited Biomarker [2]
CHEK1 TTTU902 Limited Genetic Variation [3]
HSD17B1 TTIWB6L Limited Genetic Variation [4]
RAD51 TTC0G1L Limited Autosomal dominant [5]
WRN TT2H5WQ Limited Biomarker [6]
MLH1 TTISG27 Disputed Biomarker [7]
MSH2 TTCAWRT Disputed Biomarker [8]
MUTYH TTNB0ZK Disputed Autosomal recessive [1]
PPM1D TTENJAB Disputed Autosomal dominant [5]
BRD7 TT07ZS1 moderate Biomarker [9]
CASP10 TTX5HEK moderate Genetic Variation [10]
KLK14 TTDA81R moderate Genetic Variation [11]
BRIP1 TTZV7LJ Strong Autosomal dominant [12]
LSS TT7O8ZA Strong Biomarker [13]
PPM1D TTENJAB Strong Genetic Variation [14]
ATM TTKBM7V Definitive Autosomal dominant [1]
ATM TTKBM7V Definitive Genetic Variation [15]
CDH1 TTLAWO6 Definitive Autosomal dominant [5]
CDH1 TTLAWO6 Definitive Genetic Variation [16]
CHEK2 TT9ABMF Definitive Autosomal dominant [1]
HSD17B2 TT0PT1R Definitive Genetic Variation [17]
PHB TT6U071 Definitive Genetic Variation [18]
TSG101 TTHU7JA Definitive Biomarker [19]
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⏷ Show the Full List of 28 DTT(s)

References

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2 Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.Environ Mol Mutagen. 2010 Jul;51(6):500-7. doi: 10.1002/em.20568.
3 Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families.Fam Cancer. 2010 Dec;9(4):537-40. doi: 10.1007/s10689-010-9360-7.
4 A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17 beta-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro.Genomics. 1994 Sep 1;23(1):250-2. doi: 10.1006/geno.1994.1487.
5 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6 Mutator pathways unleashed by epigenetic silencing in human cancer.Mutagenesis. 2007 Jul;22(4):247-53. doi: 10.1093/mutage/gem009. Epub 2007 Apr 4.
7 Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.
8 MSH2 rs2303425 Polymorphism is Associated with Early-Onset Breast Cancer in Taiwan.Ann Surg Oncol. 2017 Feb;24(2):603-610. doi: 10.1245/s10434-016-5168-5. Epub 2016 Mar 14.
9 No evidence for breast cancer susceptibility associated with variants of BRD7, a component of p53 and BRCA1 pathways.Fam Cancer. 2012 Dec;11(4):601-6. doi: 10.1007/s10689-012-9556-0.
10 Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.Carcinogenesis. 2006 Mar;27(3):606-9. doi: 10.1093/carcin/bgi248. Epub 2005 Oct 26.
11 MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer.Ann Oncol. 2018 May 1;29(5):1292-1303. doi: 10.1093/annonc/mdy082.
12 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
13 Tumor suppressor gene, cell surface adhesion molecule, and multidrug resistance in Mllerian serous carcinomas: clinical divergence without immunophenotypic differences.Gynecol Oncol. 2000 Dec;79(3):430-7. doi: 10.1006/gyno.2000.6000.
14 Hereditary breast cancer; Genetic penetrance and current status with BRCA.J Cell Physiol. 2019 May;234(5):5741-5750. doi: 10.1002/jcp.27464. Epub 2018 Dec 14.
15 Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
16 Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.
17 A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer.Breast Cancer Res Treat. 2007 Nov;106(1):57-64. doi: 10.1007/s10549-006-9477-4. Epub 2007 Jan 27.
18 Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism.BMC Cancer. 2008 Apr 8;8:90. doi: 10.1186/1471-2407-8-90.
19 Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families.Cancer Genet Cytogenet. 2002 Oct 15;138(2):120-7. doi: 10.1016/s0165-4608(02)00601-5.
20 Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele.Med Oncol. 2014 Feb;31(2):828. doi: 10.1007/s12032-013-0828-9. Epub 2014 Jan 12.
21 Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Sci Rep. 2017 Apr 6;7(1):681. doi: 10.1038/s41598-017-00766-9.
22 Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors.Int J Cancer. 2003 Feb 20;103(5):616-23. doi: 10.1002/ijc.10864.
23 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.Breast Cancer Res. 2005;7(6):R1005-16. doi: 10.1186/bcr1336. Epub 2005 Oct 21.
24 Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.Eur J Hum Genet. 2016 Aug;24(9):1324-9. doi: 10.1038/ejhg.2015.284. Epub 2016 Jan 20.
25 Chromosome copy number variation and breast cancer risk.Cytogenet Genome Res. 2008;123(1-4):183-7. doi: 10.1159/000184707. Epub 2009 Mar 11.
26 Mutation analysis of the AATF gene in breast cancer families.BMC Cancer. 2009 Dec 21;9:457. doi: 10.1186/1471-2407-9-457.
27 Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.Breast Cancer Res Treat. 2009 Jan;113(2):371-6. doi: 10.1007/s10549-008-9933-4. Epub 2008 Feb 13.
28 Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.Carcinogenesis. 2006 Mar;27(3):593-8. doi: 10.1093/carcin/bgi245. Epub 2005 Oct 18.
29 Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families.Breast Cancer Res Treat. 2010 Feb;120(1):165-8. doi: 10.1007/s10549-009-0453-7. Epub 2009 Jul 2.
30 Germline alterations in the CLSPN gene in breast cancer families.Cancer Lett. 2008 Mar 8;261(1):93-7. doi: 10.1016/j.canlet.2007.11.003.
31 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.Cancer Res. 2011 Mar 15;71(6):2222-9. doi: 10.1158/0008-5472.CAN-10-3958. Epub 2011 Feb 1.
32 Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.BMC Cancer. 2017 Jul 24;17(1):496. doi: 10.1186/s12885-017-3488-x.
33 Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.Carcinogenesis. 2009 Nov;30(11):1898-902. doi: 10.1093/carcin/bgp218. Epub 2009 Sep 8.
34 The functions of the multi-tasking Pfh1(Pif1) helicase.Curr Genet. 2017 Aug;63(4):621-626. doi: 10.1007/s00294-016-0675-2. Epub 2017 Jan 4.
35 A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case-control study.BMC Cancer. 2014 Nov 19;14:850. doi: 10.1186/1471-2407-14-850.
36 RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.Hum Mutat. 2019 May;40(5):566-577. doi: 10.1002/humu.23732. Epub 2019 Mar 13.
37 Mutation analysis of the DBC2 gene in sporadic and familial breast cancer.Acta Oncol. 2007;46(6):770-2. doi: 10.1080/02841860601047752.
38 A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis.PLoS One. 2014 Dec 19;9(12):e101488. doi: 10.1371/journal.pone.0101488. eCollection 2014.
39 HOX gene methylation status analysis in patients with hereditary breast cancer.J Hum Genet. 2013 Jan;58(1):51-3. doi: 10.1038/jhg.2012.118. Epub 2012 Oct 11.
40 Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.Hum Genet. 2013 May;132(5):523-36. doi: 10.1007/s00439-013-1269-4. Epub 2013 Jan 25.
41 TPD52 and NFKB1 gene expression levels correlate with G2 chromosomal radiosensitivity in lymphocytes of women with and at risk of hereditary breast cancer.Int J Radiat Biol. 2007 Jun;83(6):409-20. doi: 10.1080/09553000701317366.
42 The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.Carcinogenesis. 2007 Feb;28(2):423-6. doi: 10.1093/carcin/bgl164. Epub 2006 Sep 6.
43 ARLTS1, MDM2 and RAD51 gene variations are associated with familial breast cancer.Mol Biol Rep. 2011 Jan;38(1):343-8. doi: 10.1007/s11033-010-0113-3. Epub 2010 Apr 1.
44 BRCA2-deficient sarcomatoid mammary tumors exhibit multidrug resistance.Cancer Res. 2015 Feb 15;75(4):732-41. doi: 10.1158/0008-5472.CAN-14-0839. Epub 2014 Dec 15.
45 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.Breast Cancer Res Treat. 2009 Feb;113(3):545-51. doi: 10.1007/s10549-008-9945-0. Epub 2008 Feb 27.
46 The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.
47 Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci.Arthritis Rheum. 2013 Jun;65(6):1663-7. doi: 10.1002/art.37913.
48 The FHIT and PTPRG genes are deleted in benign proliferative breast disease associated with familial breast cancer and cytogenetic rearrangements of chromosome band 3p14.Cancer Res. 1996 Nov 1;56(21):4871-5.
49 Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.Int J Cancer. 2018 Jun 15;142(12):2512-2517. doi: 10.1002/ijc.31273. Epub 2018 Feb 5.
50 Expression of TopBP1 in hereditary breast cancer.Mol Biol Rep. 2012 Jul;39(7):7795-804. doi: 10.1007/s11033-012-1622-z. Epub 2012 Apr 28.