title: BRCA1 mutations and colorectal cancer in Poland.
abstract: Evidence to date that germline mutations in the tumor suppressor gene BRCA1 increase the incidence of colorectal cancer is mixed, and both positive and negative results have been reported. To establish whether or not inherited variation in BRCA1 influences the risk of colorectal cancer, we genotyped 2,398 unselected patients with colorectal cancer and 4,570 controls from Poland for three BRCA1 founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.42% of unselected cases of colorectal cancer and in 0.48% of controls (OR = 0.8; P = 0.8). The mutation frequency was slightly higher (0.93%) in 321 cases who reported a family history of colon cancer in a first- or second-degree relative (OR = 1.9; P = 0.5). A BRCA1 mutation was also seen in excess (0.82%) in 851 cases who were diagnosed with colorectal cancer at age 60 or earlier (OR = 1.7; P = 0.3). The mean age at onset in carriers was 7 years younger than in non-carriers (57.0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer.
authors.affiliation: Department of Genetics and Pathology, Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland.
authors.forename: Janina
authors.initials: J
authors.lastname: Suchy
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Huzarski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Byrski
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dębniak
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.forename: Dominika
authors.initials: D
authors.lastname: Wokołorczyk
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Kurzawski
authors.forename: Józef
authors.initials: J
authors.lastname: Kładny
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Jawień
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Banaszkiewicz
authors.forename: Rafał
authors.initials: R
authors.lastname: Wiśniowski
authors.forename: Piotr
authors.initials: P
authors.lastname: Wandzel
authors.forename: Jacek
authors.initials: J
authors.lastname: Starzewski
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Lorenc
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Korobowicz
authors.forename: Piotr
authors.initials: P
authors.lastname: Krokowicz
authors.forename: Karolina
authors.initials: K
authors.lastname: Horbacka
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011044:Poland; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; D004273:DNA, Neoplasm