Compendium of Cancer Genome Aberrations

Breast Cancer: Recurrent Genomic Alterations: Difference between revisions

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'''Table 2 - Major clinically significant genes associated with somatic sequence alterations in breast cancer.'''  
'''Table 2 - Major clinically significant genes associated with somatic sequence alterations in breast cancer.''' Table derived from Geiersbach et al., 2018 [[https://pubmed.ncbi.nlm.nih.gov/32087595/ PMID 32087595]] with permission from Cancer Genetics.
{| class="wikitable"
{| class="wikitable"
|+
|'''Gene(s)'''
!
|'''CGC Evidence Level'''†
!
|'''Clinical Significance and Subgroup Association(s)'''
!
|'''Therapy Implication(s)'''
!
!
!
!
!
!
!
!
|-
|-
|''[[AKT1]]''
|2
|Metastatic BC
|AKT inhibitors
|-
|''[[ATM]]''
|1
|Possible hereditary risk; TNBC
|PARP inhibitors (germline)
|-
|''[[BRCA1]], [[BRCA2]]''
|1
|Often hereditary risk; TNBC
|Platinum based therapy; PARP inhibitors (germline)
|-
|''[[CBFB]]''
|2
|ER-positive, Metastatic BC
|
|
|-
|''[[CCND1]], [[CCNE1]]''*
|2
|HER2-enriched
|CDK4/6 inhibitors
|-
|''[[CDK4]], [[CDK6]]''*
|2
|ER-positive, Metastatic BC
|CDK4/6 inhibitors
|-
|''[[CDH1]]''
|1
|Lobular histology; Possible hereditary risk
|
|
|-
|''[[CDKN2A]]''
|2
|Metastatic BC
|
|
|-
|''[[CHEK2]]''
|1
|Often hereditary risk
|PARP inhibitors (germline)
|-
|''[[ERBB2]]''*
|1
|Rare activating sequence alterations; kinase domain  resistance mutations; HER2-enriched
|HER2-targeted therapy
|-
|''[[ESR1]]''
|1
|Metastatic ER-positive
|Hormone therapy resistance
|-
|''[[FGFR1]], [[FGFR2]], [[FGFR3]], [[FGFR4]]''
|2
|ER-positive
|FGFR inhibitors
|-
|''[[FOXA1]]''
|2
|ER-positive, Luminal subtype, lobular histology
|
|
|-
|''[[GATA3]]''
|2
|ER-positive, Luminal subtype
|
|
|-
|''[[JAK2]]''*
|2
|TNBC
|JAK2 inhibitors, immunotherapy
|-
|''[[MAP2K4]]''
|2
|Metastatic BC
|
|
|-
|''[[MAP3K1]]''
|2
|ER-positive, Metastatic BC
|
|
|-
|''[[MYC]]''*
|2
|
|
|
|
|-
|''[[NBN]]''
|1
|Possible hereditary risk
|PARP inhibitors (germline)
|-
|''[[NF1]]''
|1
|Possible hereditary risk
|mTOR/PI3K/AKT inhibitors (germline)
|-
|''[[NTRK1]], [[NTRK2]], [[NTRK3]]''
|1
|
|
|NTRK inhibitors
|-
|''[[PALB2]]''
|1
|Often hereditary risk
|PARP inhibitors (germline)
|-
|''[[PIK3CA]]''
|1
|ER-Positive, Luminal subtype
|PI3K inhibitors for selected hotspot mutations; acquired hormone resistance
|-
|''[[PTEN]]''
|2
|Loss in lobular BC
Possible hereditary risk
|mTOR/PI3K/AKT inhibitors; radiation contraindicated
|-
|''[[RB1]]''
|2
|Metastatic BC
|Acquired hormone resistance
|-
|''[[STK11]]''
|1
|Possible hereditary risk
|
|
|-
|-
|''[[TBX3]]''
|2
|Lobular BC
|
|
|-
|''[[TOP2A]]''*
|2
|
|
|
|Anthracycline inhibitors
|
|
|
|
|
|
|
|
|-
|-
|
|''[[TP53]]''
|
|1
|
|TNBC, HER2-enriched, Metastatic BC
|
 
|
Possible hereditary risk
|
|Radiation contraindicated
|
|
|
|
|
|}
|}
<nowiki>*</nowiki> Indicates genes more commonly activated by amplification than by sequence variation
Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer.
Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer.


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