Metadata record for the manuscript: TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer
Creators: name: Silva, Edaise M. da
name: Selenica, Pier
name: Vahdatinia, Mahsa
name: Pareja, Fresia
name: Paula, Arnaud Da Cruz
name: Ferrando, Lorenzo
name: Gazzo, Andrea M.
name: Dopeso, Higinio
name: Ross, Dara S.
name: Bakhteri, Ariya
name: Riaz, Nadeem
name: Chandarlapaty, Sarat
name: Razavi, Pedram
name: Norton, Larry
name: Wen, Hannah Y.
name: Brogi, Edi
name: Weigelt, Britta
name: Zhang, Hong
name: Reis-Filho, Jorge S.
Publisher: name: figshare
Year: 2021
Subjects: subject: Cancer Genetics
subject: Cancer
subject: Medical and Health Sciences not elsewhere classified
subject: Biological Sciences not elsewhere classified
subject: Genetics
subject: FOS: Biological sciences

description: <b>Summary</b><br>

This
metadata record provides details of the data supporting the claims of the
related manuscript: “<i>TERT </i>promoter hotspot mutations and
gene amplification in metaplastic breast cancer”.

The
related study sought to determine the frequency of genetic alterations
affecting <i>TERT</i> in a cohort of 60 metaplastic
breast cancers (MBCs) with distinct predominant metaplastic components
(squamous, 23%; spindle, 27%; osseous, 8%; chondroid, 42%), and to compare the
repertoire of genetic alterations of MBCs according to the presence of <i>TERT</i> promoter hotspot mutations or gene
amplification.

 

Type of data:
whole exome sequencing, histologic images 

Subject of
data: <i>Homo sapiens</i>

Sample size:
60 primary MBCs

Population
characteristics: Archived tumours classified as metaplastic breast cancer with
representative materials available were selected for this study and
retrospectively analysed.

 

<b>Data
access</b>

The whole-exome
sequencing data supporting Figures 2, 3, Supplementary Figures S2 and S3, and
Supplementary Tables S1, S2 and S3 are openly available in the <i>Sequence Read Archive</i> via the following
accession: https://identifiers.org/ncbi/insdc.sra:SRP073692.
These data were first described in the original publication by Ng et al (https://doi.org/10.1158/1078-0432.CCR-16-2857).

MSK-IMPACT
sequencing data of 3 samples included in the MSK-IMPACT Clinical Sequencing
Cohort supporting Figures 2, 3, Supplementary Figures S2, S3, and Supplementary
Tables S1 and S2 are publicly available at cBioPortal (https://identifiers.org/cbioportal:msk_impact_2017).
These data were first described in the original publication by Zehir et al (https://doi.org/10.1038/nm.4333). 

Sequencing
data of 19 previously unreported MBCs (5 subjected to whole-exome sequencing
and 14 to MSK-IMPACT sequencing) are available at cBioPortal (https://identifiers.org/cbioportal:mbc_msk_2021).

Additionally,
the following data are available upon request from the corresponding authors: Histologic
images supporting Figure 1 and Supplementary Figure S1; Sanger sequencing
electropherograms supporting Figure 2, Table 2, and Supplementary Figures S1
and S4; Clinicopathologic data supporting Figure 2 and 3, Table 1, and
Supplementary Table S1.

 

<b>Corresponding author(s) for this study</b>

Dr.
Jorge S. Reis-Filho, MD PhD FRCPath, Department of Pathology, Memorial Sloan
Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Email:
reisfilj@mskcc.org. 

Dr.
Hong Zhang, MD, Department of Pathology, Memorial Sloan Kettering Cancer
Center, 1275 York Avenue, New York, NY 10065, USA. Email: zhangh3@mskcc.org.

<br>
<b>Study approval </b>

Institutional
Review Board (IRB) of Memorial Sloan Kettering Cancer Center (MSKCC)