title: Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis.
abstract: OBJECTIVE
  our aim was to evaluate whether somatic mutations in five genes were associated with an early age at presentation of breast cancer (BC) or serous ovarian cancer (SOC).
  
  
  METHODS
  COSMIC database was searched for the five most frequent somatic mutations in BC and SOC. A systematic review of PubMed was performed. Young age for BC and SOC patients was set at ≤ 35 and ≤ 40 years, respectively. Age groups were also classified in < 30 years and every 10 years thereafter.
  
  
  RESULTS
  twenty six (1,980 patients, 111 younger) and 16 studies (598, 41 younger), were analyzed for BC and SOC, respectively. In BC, PIK3CA wild type tumor was associated with early onset, not confirmed in binary regression with estrogen receptor (ER) status. In HER2-negative tumors, there was increased frequency of PIK3CA somatic mutation in older age groups; in ER-positive tumors, there was a trend towards an increased frequency of PIK3CA somatic mutation in older age groups. TP53 somatic mutation was described in 20% of tumors from both younger and older patients; PTEN, CDH1 and GATA3 somatic mutation was investigated only in 16 patients and PTEN mutation was detected in one of them. In SOC, TP53 somatic mutation was rather common, detected in more than 50% of tumors, however, more frequently in older patients.
  
  
  CONCLUSIONS
  frequency of somatic mutations in specific genes was not associated with early-onset breast cancer. Although very common in patients with serous ovarian cancer diagnosed at all ages, TP53 mutation was more frequently detected in older women.
authors.affiliation: Department of Radiology and Oncology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Giselly
authors.initials: G
authors.lastname: Encinas
authors.affiliation: Instituto do Câncer do Estado de São Paulo, FM, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Maistro
authors.affiliation: ICESP, FM, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Fátima Solange
authors.initials: FS
authors.lastname: Pasini
authors.affiliation: ICESP, FM, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Maria Lucia Hirata
authors.initials: ML
authors.lastname: Katayama
authors.affiliation: ICESP, FM, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Maria Mitzi
authors.initials: MM
authors.lastname: Brentani
authors.affiliation: Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
authors.forename: Geertruida Hendrika de
authors.initials: GH
authors.lastname: Bock
authors.affiliation: ICESP, FM, Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Maria Aparecida Azevedo Koike
authors.initials: MA
authors.lastname: Folgueira
mesh_terms: D000367:Age Factors; D001943:Breast Neoplasms / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics*; D000077216:Carcinoma, Ovarian Epithelial; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D016158:Genes, p53 / Q000235:genetics; D006801:Humans; D009154:Mutation; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D055815:Young Adult
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human