title: Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
abstract: BACKGROUND
  Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland.
  
  
  METHODS
  We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland.
  
  
  RESULTS
  A BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %).
  
  
  CONCLUSIONS
  The standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population.
authors: Oncogene Diagnostics, Mogilska 86, 31-546 Kraków, Poland.
authors: P
authors: P
authors: Wojcik
authors: Department in Cracow, Oncology Cancer Center Institute Marie Skłodowska-Curie, Cracow, Poland.
authors: M
authors: M
authors: Jasiowka
authors: Oncogene Diagnostics, Mogilska 86, 31-546 Kraków, Poland.
authors: E
authors: E
authors: Strycharz
authors: Oncogene Diagnostics, Mogilska 86, 31-546 Kraków, Poland.
authors: M
authors: M
authors: Sobol
authors: First Chair of General, Oncological, and Gastrointestinal Surgery, Jagiellonian University Medical College, Krakow, Poland.
authors: D
authors: D
authors: Hodorowicz-Zaniewska
authors: Outpatient Clinic of Oncological Surgery, St. Raphael Hospital, Cracow, Poland.
authors: P
authors: P
authors: Skotnicki
authors: Clinic of Oncology, Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland.
authors: T
authors: T
authors: Byrski
authors: Department in Cracow, Oncology Cancer Center Institute Marie Skłodowska-Curie, Cracow, Poland.
authors: P
authors: P
authors: Blecharz
authors: Department in Cracow, Oncology Cancer Center Institute Marie Skłodowska-Curie, Cracow, Poland.
authors: E
authors: E
authors: Marczyk
authors: Department in Cracow, Oncology Cancer Center Institute Marie Skłodowska-Curie, Cracow, Poland.
authors: I
authors: I
authors: Cedrych
authors: Department in Cracow, Oncology Cancer Center Institute Marie Skłodowska-Curie, Cracow, Poland.
authors: J
authors: J
authors: Jakubowicz
authors: Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland.
authors: J
authors: J
authors: Lubiński
authors: Women's College Research Institute, Women's College Hospital, Toronto, Canada.
authors: V
authors: V
authors: Sopik
authors: Women's College Research Institute, Women's College Hospital, Toronto, Canada.
authors: S
authors: S
authors: Narod
authors: Oncogene Diagnostics, Mogilska 86, 31-546 Kraków, Poland ; Faculty of Health Science, Department of Medical Physiology, Jagiellonian University Medical College, Cracow, Poland.
authors: P
authors: P
authors: Pierzchalski
keywords: BRCA1; BRCA2; Breast cancer; Ovarian cancer; PALB2