Genomic, Transcriptomic, Epigenetic, and Immune Profiling of Mucinous Breast Cancer

Journal of the National Cancer Institute
Bastien NguyenChristine Desmedt

Abstract

Although invasive ductal breast cancer (IDC) represents the most common histological type of breast cancer, minor subtypes exist such as mucinous breast cancer (MuBC). MuBC are distinguished by tumor cells floating in extracellular mucin. MuBC patients are generally older and associated with a favorable prognosis. To unravel the molecular architecture of MuBC, we applied low-pass whole-genome sequencing and microscopic evaluation of stromal tumor infiltrating lymphocytes to 30 MuBC from a retrospective institutional cohort. We further analyzed two independent datasets from the International Cancer Genomics Consortium and The Cancer Genome Atlas. Genomic data (n = 26 MuBC, n = 535 estrogen receptor [ER] positive/HER2-negative IDC), methylation data (n = 28 MuBC, n = 529 ER-positive/HER2-negative IDC), and transcriptomic data (n = 27 MuBC, n = 467 ER-positive/HER2-negative IDC) were analyzed. MuBC was characterized by low tumor infiltrating lymphocyte levels (median = 0.0%, average = 3.4%, 95% confidence interval = 1.9% to 4.9%). Compared with IDC, MuBC had a lower genomic instability (P = .01, two-sided Mann-Whitney U test) and a decreased prevalence of PIK3CA mutations (39.7% in IDC vs 6.7% in MuBC, P = .01 in the International...Continue Reading

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Citations

Mar 27, 2020·Medical Sciences : Open Access Journal·Ugo TestaElvira Pelosi
Oct 8, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Fresia ParejaJorge S Reis-Filho
Oct 22, 2020·NPJ Breast Cancer·Fresia ParejaJorge S Reis-Filho
Apr 8, 2020·Seminars in Cancer Biology·Emad A Rakha, Fresia G Pareja
Mar 19, 2021·Frontiers in Oncology·Hyun Ee YimSeok Yun Kang
May 6, 2021·Scientific Reports·Bastien NguyenNikolaus Schultz

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