title: A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.
abstract: BACKGROUND
  The incidence of breast cancer (BC) in Arab women is lower compared to the incidence in the Jewish population in Israel; still, it is the most common malignancy among Arab women. There is a steep rise in breast cancer incidence in the Arab population in Israel over the last 10 years that can be attributed to life style changes. But, the younger age of BC onset in Arab women compared with that of the Jewish population is suggestive of a genetic component in BC occurrence in that population.
  
  
  METHODS
  We studied the family history of 31 women of Palestinian Arab (PA) origin affected with breast (n = 28), ovarian (n = 3) cancer. We used denaturing high performance liquid chromatography (DHPLC) to screen for mutations of BRCA1/2 in 4 women with a personal and family history highly suggestive of genetic predisposition.
  
  
  RESULTS
  A novel BRCA1 mutation, E1373X in exon 12, was found in a patient affected with ovarian cancer. Four of her family members, 3 BC patients and a healthy individual were consequently also found to carry this mutation. Of the other 27 patients, which were screened for this specific mutation none was found to carry it.
  
  
  CONCLUSIONS
  We found a novel BRCA1 mutation in a family of PA origin with a history highly compatible with BRCA1 phenotype. This mutation was not found in additional 30 PA women affected with BC or OC. Therefore full BRCA1/2 screening should be offered to patients with characteristic family history. The significance of the novel BRCA1 mutation we identified should be studied in larger population. However, it is likely that the E1373X mutation is not a founder frequent mutation in the PA population.
authors.affiliation: Sharett Institute of Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel. luna@hadassah.org.il
authors.forename: Luna
authors.initials: L
authors.lastname: Kadouri
authors.forename: Dani
authors.initials: D
authors.lastname: Bercovich
authors.forename: Arava
authors.initials: A
authors.lastname: Elimelech
authors.forename: Israela
authors.initials: I
authors.lastname: Lerer
authors.forename: Michal
authors.initials: M
authors.lastname: Sagi
authors.forename: Gila
authors.initials: G
authors.lastname: Glusman
authors.forename: Chen
authors.initials: C
authors.lastname: Shochat
authors.forename: Sigal
authors.initials: S
authors.lastname: Korem
authors.forename: Tamar
authors.initials: T
authors.lastname: Hamburger
authors.forename: Aviram
authors.initials: A
authors.lastname: Nissan
authors.forename: Nahil
authors.initials: N
authors.lastname: Abu-Halaf
authors.forename: Muhmud
authors.initials: M
authors.lastname: Badrriyah
authors.forename: Dvorah
authors.initials: D
authors.lastname: Abeliovich
authors.forename: Tamar
authors.initials: T
authors.lastname: Peretz
mesh_terms: D000328:Adult; D017668:Age of Onset; D018912:Arabs / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007557:Israel; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000208:ethnology* / Q000235:genetics*; D010641:Phenotype