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Moelans, Cathy B; de Ligt, Joep; van der Groep, Petra; Prins, Pjotr; Besselink, Nicolle J M; Hoogstraat, Marlous; ter Hoeve, Natalie D; Lacle, Miangela M; Kornegoor, Robert; van der Pol, Carmen C; de Leng, Wendy W J; Barbé, Ellis; van der Vegt, Bert; Martens, John; Bult, Peter; Smit, Vincent T H B M; Koudijs, Marco J; Nijman, Isaac J; Voest, Emile E; Selenica, Pier; Weigelt, Britta; Reis-Filho, Jorge S; van der Wall, Elsken; Cuppen, Edwin;

The molecular genetic make-up of male breast cancer

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  • Medientyp: E-Artikel
  • Titel: The molecular genetic make-up of male breast cancer
  • Beteiligte: Moelans, Cathy B; de Ligt, Joep; van der Groep, Petra; Prins, Pjotr; Besselink, Nicolle J M; Hoogstraat, Marlous; ter Hoeve, Natalie D; Lacle, Miangela M; Kornegoor, Robert; van der Pol, Carmen C; de Leng, Wendy W J; Barbé, Ellis; van der Vegt, Bert; Martens, John; Bult, Peter; Smit, Vincent T H B M; Koudijs, Marco J; Nijman, Isaac J; Voest, Emile E; Selenica, Pier; Weigelt, Britta; Reis-Filho, Jorge S; van der Wall, Elsken; Cuppen, Edwin;
  • Erschienen: Bioscientifica, 2019
  • Erschienen in: Endocrine-Related Cancer
  • Sprache: Nicht zu entscheiden
  • DOI: 10.1530/erc-19-0278
  • ISSN: 1479-6821; 1351-0088
  • Schlagwörter: Cancer Research ; Endocrinology ; Oncology ; Endocrinology, Diabetes and Metabolism
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>Male breast cancer (MBC) is extremely rare and accounts for less than 1% of all breast malignancies. Therefore, clinical management of MBC is currently guided by research on the disease in females. In this study, DNA obtained from 45 formalin-fixed paraffin-embedded (FFPE) MBCs with and 90 MBCs (52 FFPE and 38 fresh-frozen) without matched normal tissues was subjected to massively parallel sequencing targeting all exons of 1943 cancer-related genes. The landscape of mutations and copy number alterations was compared to that of publicly available estrogen receptor (ER)-positive female breast cancers (smFBCs) and correlated to prognosis. From the 135 MBCs, 90% showed ductal histology, 96% were ER-positive, 66% were progesterone receptor (PR)-positive, and 2% HER2-positive, resulting in 50, 46 and 4% luminal A-like, luminal B-like and basal-like cases, respectively. Five patients had Klinefelter syndrome (4%) and 11% of patients harbored pathogenic <jats:italic>BRCA2</jats:italic> germline mutations. The genomic landscape of MBC to some extent recapitulated that of smFBC, with recurrent <jats:italic>PIK3CA</jats:italic> (36%) and <jats:italic>GATA3</jats:italic> (15%) somatic mutations, and with 40% of the most frequently amplified genes overlapping between both sexes. <jats:italic>TP53</jats:italic> (3%) somatic mutations were significantly less frequent in MBC compared to smFBC, whereas somatic mutations in genes regulating chromatin function and homologous recombination deficiency-related signatures were more prevalent. <jats:italic>MDM2</jats:italic> amplifications were frequent (13%), correlated with protein overexpression (<jats:italic>P</jats:italic> = 0.001) and predicted poor outcome (<jats:italic>P</jats:italic> = 0.007). In conclusion, despite similarities in the genomic landscape between MBC and smFBC, MBC is a molecularly unique and heterogeneous disease requiring its own clinical trials and treatment guidelines.</jats:p>
  • Zugangsstatus: Freier Zugang