BRCA1 mutations and colorectal cancer in Poland.
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.
Suchy
Janina
J
Department of Genetics and Pathology, Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland.
Cybulski
Cezary
C
Górski
Bohdan
B
Huzarski
Tomasz
T
Byrski
Tomasz
T
Dębniak
Tadeusz
T
Gronwald
Jacek
J
Jakubowska
Anna
A
Wokołorczyk
Dominika
D
Kurzawski
Grzegorz
G
Kładny
Józef
J
Jawień
Arkadiusz
A
Banaszkiewicz
Zbigniew
Z
Wiśniowski
Rafał
R
Wandzel
Piotr
P
Starzewski
Jacek
J
Lorenc
Zbigniew
Z
Korobowicz
Elżbieta
E
Krokowicz
Piotr
P
Horbacka
Karolina
K
Lubiński
Jan
J
Narod
Steven A
SA
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
D019313:BRCA1 Protein; D004273:DNA, Neoplasm