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.
Similar content being viewed by others
References
Ford D, Easton DF, Bishop DT et al (1994) Risks of cancer in BRCA1-mutation carriers. Breast cancer linkage consortium. Lancet 343:692–695
Brose MS, Rebbeck TR, Calzone KA et al (2002) Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94:1365–1372
Thompson D, Easton DF (2002) The breast cancer linkage consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94:1358–1365
Kadouri L, Hubert A, Rotenberg Y et al (2007) Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. J Med Genet 44(7):467–471
Struewing JP, Hartge P, Wacholder S et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401–1408
Risch HA, McLaughlin JR, Cole DE et al (2001) Prevalence and penetrance of germline mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68:700–710
Niell BL, Rennert G, Bonner JD et al (2004) BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. J Natl Cancer Inst 96:15–21
Kirchhoff T, Satagopan JM, Kauff ND et al (2004) Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. J Natl Cancer Inst 96:68–70
Gorski B, Jakubowska A, Huzarski T et al (2004) A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 110:683–686
Gorski B, Cybulski C, Huzarski T et al (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92:19–24
Begg CB (2002) On the use of familial aggregation in population based case probands for calculating penetrance. J Natl Cancer Inst 94:1221–1226
Gruber SB, Petersen GM (2002) Cancer risks in BRCA1 carriers: time for the next generation of studies. J Natl Cancer Inst 94:1344–1345
Cybulski C, Górski B, Huzarski T et al (2004) CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 75(6):1131–1135
Plawski A, Slomski R (2008) APC gene mutations causing familial adenomatous polyposis in Polish patients. J Appl Genet 49(4):407–414
Conflict of interest
None of the authors declared a conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Additional information
This paper was written with information obtained from research on human subjects. Procedures were followed in accordance with the Helsinki Declaration of the World Medical Association.
Rights and permissions
About this article
Cite this article
Suchy, J., Cybulski, C., Górski, B. et al. BRCA1 mutations and colorectal cancer in Poland. Familial Cancer 9, 541–544 (2010). https://doi.org/10.1007/s10689-010-9378-x
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-010-9378-x