title: Prognostic value of BRCA1 mutations in familial breast cancer patients affected by a second primary cancer.
abstract: The aim of this prospective study is to assess the prognostic value of BRCA1 mutations in familial breast cancer patients affected by a second primary cancer. The study group comprised 19 women having multiple primary breast cancers (breast-breast, breast-other primary) who were either BRCA1 mutation carriers, or not. Appearance of a second primary cancer was recognised as the event and survival and second primary free cancer survival was calculated from the date of diagnosis to the secondary primary cancer. The results of this study show that the event free survival of women with familial breast cancer affected by a second primary cancer, who are BRCA1 mutation carriers is better, compared with women from the general population with breast cancer selected for second primary cancer sites and all second primary sites -- P = 0.009 and P = 0.0078 respectively. In contrast, the event free survival of women with breast cancer affected by a second primary cancer, without a breast cancer family history, who are not BRCA1 mutation carriers is the same, as for women from the general population with breast cancer selected for second primary cancer sites and all second primary sites -- P = 0.6417 and P = 0.4859 respectively. The median time from diagnosis of the first to second primary cancer in the mutation carrying, and non-carrying, groups was 8,7 and 1,9 years respectively. In the study group, the highest event free survival rates had been observed among those carrying the said mutations -- 66.7% at 5 years, and 33.3% at 10 years -- in contrast with those not carrying the mutations, with rates of 30.8% and 15.4% respectively.
authors.affiliation: Institute of Oncology, Vilnius University, Santariskiu 1str, Vilnius, Lithuania. elena.jelsakova@seb.lt
authors.forename: Pavel
authors.initials: P
authors.lastname: Elsakov
authors.forename: Juozas
authors.initials: J
authors.lastname: Kurtinaitis
authors.forename: Valerij
authors.initials: V
authors.lastname: Ostapenko
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D018572:Disease-Free Survival; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008097:Lithuania / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human