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Breast Cancer Research
Published in: Breast Cancer Research 1/2016

Open Access 01-12-2016 | Research article

Clonal relationships between lobular carcinoma in situ and other breast malignancies

Authors: Colin B. Begg, Irina Ostrovnaya, Jose V. Scarpa Carniello, Rita A. Sakr, Dilip Giri, Russell Towers, Michail Schizas, Marina De Brot, Victor P. Andrade, Audrey Mauguen, Venkatraman E. Seshan, Tari A. King

Published in: Breast Cancer Research | Issue 1/2016

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Abstract

Background

Recent evidence suggests that lobular carcinoma in situ (LCIS) can be a clonal precursor of invasive breast cancers of both the ductal and lobular phenotypes. We sought to confirm these findings with an extensive study of fresh frozen breast specimens from women undergoing mastectomy.

Methods

Patients with a history of LCIS presenting for therapeutic mastectomy were identified prospectively. Frozen tissue blocks were collected, screened for lesions of interest, and subjected to microdissection and DNA extraction. Copy number profiling, whole-exome sequencing, or both were performed. Clonal relatedness was assessed using specialized statistical techniques developed for this purpose.

Results

After exclusions for genotyping failure, a total of 84 lesions from 30 patients were evaluated successfully. Strong evidence of clonal relatedness was observed between an LCIS lesion and the invasive cancer for the preponderance of cases with lobular carcinoma. Anatomically distinct in situ lesions of both ductal and lobular histology were also shown to be frequently clonally related.

Conclusions

These data derived from women with LCIS with or without invasive cancer confirm that LCIS is commonly the clonal precursor of invasive lobular carcinoma and that distinct foci of LCIS frequently share a clonal origin, as do foci of LCIS and ductal carcinoma in situ.
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Metadata
Title
Clonal relationships between lobular carcinoma in situ and other breast malignancies
Authors
Colin B. Begg
Irina Ostrovnaya
Jose V. Scarpa Carniello
Rita A. Sakr
Dilip Giri
Russell Towers
Michail Schizas
Marina De Brot
Victor P. Andrade
Audrey Mauguen
Venkatraman E. Seshan
Tari A. King
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/2016
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/s13058-016-0727-z

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