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− | '''Table 1 - Clinically significant copy number alterations in breast cancer''' Table derived from Geiersbach et al., 2018 [<nowiki>PMID 32087595</nowiki>] with permission from Cancer Genetics. | + | '''Table 1 - Clinically significant copy number alterations and regions of loss of heterozygosity in breast cancer.''' Table derived from Geiersbach et al., 2018 [[https://pubmed.ncbi.nlm.nih.gov/32087595/ PMID 32087595]] with permission from Cancer Genetics.<ref>{{Cite journal|last=Geiersbach|first=Katherine B.|last2=Chen|first2=Hui|last3=Emmadi|first3=Rajyasree|last4=Haskell|first4=Gloria T.|last5=Lu|first5=Xinyan|last6=Liu|first6=Yajuan J.|last7=Swisshelm|first7=Karen|date=2020-06|title=Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group|url=https://pubmed.ncbi.nlm.nih.gov/32087595|journal=Cancer Genetics|volume=244|pages=11–20|doi=10.1016/j.cancergen.2020.02.002|issn=2210-7762|pmid=32087595}}</ref> |
| {| class="wikitable" | | {| class="wikitable" |
| |'''Alteration''' | | |'''Alteration''' |
| |'''Relevant Gene(s)''' | | |'''Relevant Gene(s)''' |
− | |'''CGC Evidence Level''' | + | |'''CGC Evidence Level'''† |
| |'''Subgroup Association(s)''' | | |'''Subgroup Association(s)''' |
| |- | | |- |
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| |METABRIC IntClust1, ER Positive | | |METABRIC IntClust1, ER Positive |
| |} | | |} |
− | Abbreviations: TNBC, triple negative breast cancer. | + | † See table below Table 2 for CGC Evidence levels |
| + | |
| + | Abbreviations: TNBC, triple negative breast cancer; LOH, loss of heterozygosity. |
| + | |
| | | |
− | '''Table 2 - Major clinically significant genes associated with somatic sequence alterations in breast cancer''' Table derived from Geiersbach et al., 2018 [<nowiki>PMID 32087595</nowiki>] with permission from Cancer Genetics. | + | '''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)''' | | |'''Gene(s)''' |
− | |'''CGC Evidence Level''' | + | |'''CGC Evidence Level'''† |
| |'''Clinical Significance and Subgroup Association(s)''' | | |'''Clinical Significance and Subgroup Association(s)''' |
| |'''Therapy Implication(s)''' | | |'''Therapy Implication(s)''' |
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| |PARP inhibitors (germline) | | |PARP inhibitors (germline) |
| |- | | |- |
− | |''[[BRCA1 syndrome|BRCA1]], [[BRCA2 syndrome|BRCA2]]'' | + | |''[[BRCA1]], [[BRCA2]]'' |
| |1 | | |1 |
| |Often hereditary risk; TNBC | | |Often hereditary risk; TNBC |
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| Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer. | | Abbreviations: BC, breast cancer. TNBC, triple negative breast cancer. |
| | | |
− | '''Cancer Genomics Consortium Levels of Evidence''' | + | †'''Cancer Genomics Consortium Levels of Evidence''' |
| {| class="wikitable" | | {| class="wikitable" |
| |'''Tier''' | | |'''Tier''' |
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| |Benign or likely benign | | |Benign or likely benign |
| |} | | |} |
− | '''Table 3 - Genes with known hereditary risk associations in breast cancer''' Table derived from Geiersbach et al., 2018 [<nowiki>PMID 32087595</nowiki>] with permission from Cancer Genetics. | + | |
| + | |
| + | '''Table 3 - Genes with known hereditary risk associations 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''' | | |'''Gene''' |
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| |TNBC | | |TNBC |
| |- | | |- |
− | |''BRCA1'' | + | |''[[BRCA1]]'' |
| |[[BRCA1 syndrome|BRCA-Related Breast/ Ovarian Cancer Syndrome]]; TNBC | | |[[BRCA1 syndrome|BRCA-Related Breast/ Ovarian Cancer Syndrome]]; TNBC |
| |- | | |- |
− | |''BRCA2'' | + | |''[[BRCA2]]'' |
| |[[BRCA2 syndrome|BRCA-Related Breast/ Ovarian Cancer Syndrome]]; TNBC | | |[[BRCA2 syndrome|BRCA-Related Breast/ Ovarian Cancer Syndrome]]; TNBC |
| |- | | |- |
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| |} | | |} |
| Abbreviations: TNBC, triple negative breast cancer. | | Abbreviations: TNBC, triple negative breast cancer. |
| + | ==Reference== |
| + | <references /> |