Breast Cancer: Recurrent Genomic Alterations: Difference between revisions
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m Jennelleh moved page Breast Cancer Table: Recurrent Genomic Alterations Detected by Chromosomal Microarray to Breast Cancer: Recurrent Genomic Alterations without leaving a redirect: Updated information derives from more technologies than just CMA |
Kgeiersbach (talk | contribs) update gene name EMS1 is now CTTN |
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|Diseases: Inactivating alterations / aberrant expression in a subset of ILC with retained CDH1 gene expression. Diffuse cytoplasmic staining of CTNND1 (p120) by IHC, instead of expected membranous staining, is another marker of ILC. | |Diseases: Inactivating alterations / aberrant expression in a subset of ILC with retained CDH1 gene expression. Diffuse cytoplasmic staining of CTNND1 (p120) by IHC, instead of expected membranous staining, is another marker of ILC. | ||
|37443169; 38347189; 39941785 | |37443169; 38347189; 39941785 | ||
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|''CTTN'' | |||
|2 | |||
|Gain of function | |||
|164765 | |||
|[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CTTN CTTN] | |||
|CTTN breast | |||
|amplification, altered expression, sequence variants | |||
|Diseases: primary breast cancer. Amplified in one four core regions within 11q13 that can be amplified independently or together in different combinations (11q13 amp in about 15% of breast cancers). | |||
|10706127; 20213079; 12755491; 1532244; 16652145 | |||
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|''CYP19A1'' | |''CYP19A1'' | ||
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|Diseases: metaplastic BC, basal- like or claudin low TNBC. Therapy: EGFR amplification (pre-existing or de novo) associates with resistance to hormone therapy. | |Diseases: metaplastic BC, basal- like or claudin low TNBC. Therapy: EGFR amplification (pre-existing or de novo) associates with resistance to hormone therapy. | ||
|15920544; 25927147; 7606735; 35507014; 30205045 | |15920544; 25927147; 7606735; 35507014; 30205045 | ||
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|''EP300'' | |''EP300'' | ||
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|2 | |2 | ||
|Clinical trials, large studies, case series in the peer-reviewed medical literature. | |Clinical trials, large studies, case series in the peer-reviewed medical literature. | ||
|Recurrent abnormalities. Emerging evidence supporting clinical utility of gene variant(s) for diagnosis, selection of therapies, or predicting disease outcome. | |Recurrent abnormalities. Emerging evidence supporting clinical utility of gene variant(s) for diagnosis, selection of therapies, or predicting disease outcome. | ||
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|3 | |3 | ||