Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma of the salivary gland is a newly recognized entity that morphologically resembles breast secretory carcinoma and has a characteristic t(12;15)(p13;q25) ETV6-NTRK3 translocation. 31423558 2020
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Histological findings and ETV6-FISH analysis confirmed a parotid SC with high-grade transformation. 31679811 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma (SC), which is a common type of minor salivary gland tumor (MSGT), was suspected; however, mammaglobin was negative and ETV6-NTRK3 (EN) fusion was not observed. 30634950 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma (SC) of salivary glands is a newly described low-grade malignancy characterized by the presence of ETV6 rearrangement. 30942913 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE The cases included 7 SC with classic ETV6-NTRK3 gene fusion and 3 SC harboring ETV6-RET gene fusion. 30130630 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma is a special-type breast carcinoma underpinned by a recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion. 31498178 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Fluorescent <i>in situ</i> hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR) was performed to identify the ETV6-NTRK3 rearrangement of SBC. 31119054 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma of the skin is a rare adnexal carcinoma, which is morphologically and immunohistochemically identical to secretory carcinoma of the breast and is associated with the presence of t (12;15) translocation, resulting in the ETV6-NTRK3 gene fusion. 31045890 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Secretory carcinoma (previously known as mammary analogue secretory carcinoma) is characterised by ETV6 rearrangements, most often ETV6-NTRK3 fusion. 30801752 2019
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 Biomarker disease BEFREE However, numerous molecular/genetic advances in the understanding of salivary gland neoplasms during the last decade have facilitated the development of many useful diagnostic markers, such as PLAG1 and HMGA2 immunohistochemistry for pleomorphic adenoma and ETV6 fluorescence in situ hybridization for secretory carcinoma. 30156767 2018
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Mammary analogue secretory carcinoma of salivary gland (MASC) is a tumor with histopathologic and immunophenotypic features mimicking secretory carcinoma of the breast harboring the ETV6 split. 29752049 2018
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 AlteredExpression disease BEFREE The diagnosis was confirmed by demonstrating specific immunohistochemical profile and the presence of ETV6-NTRK3 gene fusion, which is characteristic of secretory carcinoma of other sites. 29963997 2018
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. 29099503 2018
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Rare cases of purported secretory carcinoma of the skin adnexa have been reported, but their relationship to true secretory carcinoma of the breast and salivary glands is unclear, as they generally do not harbor ETV6 rearrangements. 27631515 2017
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor that shares the same histologic appearance and ETV6 gene (12p13) rearrangement as secretory carcinoma of the breast. 27575269 2016
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Mammary analogue secretory carcinoma (MASC) is a recently recognized salivary gland tumor harboring an ETV6-NTRK3 translocation similar to secretory carcinoma of the breast. 25456394 2015
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE We confirmed that ETV6-NTRK3 gene rearrangement and amylase positivity are good diagnostic markers for SC and ACCA, respectively. 23944930 2013
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor that has morphologic features similar to secretory carcinoma of the breast and that also harbors the same ETV6 translocation. 24029710 2013
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma. 21401966 2011
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE Is acinic cell carcinoma a variant of secretory carcinoma? A FISH study using ETV6'split apart' probes. 18462362 2008
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 Biomarker disease BEFREE In two exceptional instances, the same translocation and gene fusion occurs in two unrelated diseases: ETV6-NTRK fusion in infantile fibrosarcoma and secretory carcinoma of the breast, and ALK-TPM3 fusion in inflammatory myofibroblastic tumor and large cell anaplastic lymphoma. 17163160 2006
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE To demonstrate the reliability of the probes generated with this protocol, four strategies were employed: (i) probes mapping to cyclin D1 (CCND1) were generated and their performance was compared with that of a commercially available probe for the same gene in a series of 10 FFPETS of breast cancer samples of which five harboured CCND1 amplification; (ii) probes targeting cyclin-dependent kinase 4 were used to validate an amplification identified by microarray-based comparative genomic hybridization (aCGH) in a pleomorphic adenoma; (iii) probes targeting fibroblast growth factor receptor 1 and CCND1 were used to validate amplifications mapping to these regions, as defined by aCGH, in an invasive lobular breast carcinoma with FISH and CISH; and (iv) gene-specific probes for ETV6 and NTRK3 were used to demonstrate the presence of t(12;15)(p12;q25) translocation in a case of breast secretory carcinoma with dual colour FISH. 16446704 2006
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 AlteredExpression disease BEFREE Recently, it has been reported that human secretory breast carcinoma expresses the ETV6-NTRK3 gene fusion that was previously cloned in pediatric mesenchymal cancers. 15695086 2005
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE We tested four histologically confirmed cases of SBC for the presence of the ETV6-NTRK3 gene fusion and then applied the FISH assay to tissue microarrays (TMAs) in order to screen 481 cases of formalin-fixed, paraffin-embedded invasive breast carcinomas of various histologic subtypes. 15101049 2004
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma
0.100 GeneticVariation disease BEFREE The ETV6-NTRK3 (EN) gene fusion occurs in human pediatric spindle cell sarcomas and secretory breast carcinoma, and encodes the oligomerization domain of the ETV6 transcription factor fused to the protein-tyrosine kinase domain of NTRK3. 14668342 2004