Breast cancer diagnosed during pregnancy is associated with enrichment of non-silent mutations, mismatch repair deficiency signature and mucin mutations Journal Article


Authors: Nguyen, B.; Venet, D.; Azim, H. A. Jr; Brown, D.; Desmedt, C.; Lambertini, M.; Majjaj, S.; Pruneri, G.; Peccatori, F.; Piccart, M.; Rothé, F.; Sotiriou, C.
Article Title: Breast cancer diagnosed during pregnancy is associated with enrichment of non-silent mutations, mismatch repair deficiency signature and mucin mutations
Abstract: Breast cancer diagnosed during pregnancy (BCP) is a rare and highly challenging disease. To investigate the impact of pregnancy on the biology of breast cancer, we conducted a comparative analysis of a cohort of BCP patients and non-pregnant control patients by integrating gene expression, copy number alterations and whole genome sequencing data. We showed that BCP exhibit unique molecular characteristics including an enrichment of non-silent mutations, a higher frequency of mutations in mucin gene family and an enrichment of mismatch repair deficiency mutational signature. This provides important insights into the biology of BCP and suggests that these features may be implicated in promoting tumor progression during pregnancy. In addition, it provides an unprecedented resource for further understanding the biology of breast cancer in young women and how pregnancy could modulate tumor biology. © 2018, The Author(s).
Journal Title: npj Breast Cancer
Volume: 4
ISSN: 2374-4677
Publisher: Nature Publishing Group  
Date Published: 2018-08-06
Start Page: 23
Language: English
DOI: 10.1038/s41523-018-0077-3
PROVIDER: scopus
PMCID: PMC6078984
PUBMED: 30109263
DOI/URL:
Notes: Article -- Export Date: 3 December 2018 -- Source: Scopus
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  1. David Norman Brown
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