This article is part of the supplement: Annual Conference on Hereditary Cancers 2011

Open Access Meeting abstract

Folic acid and cancer risk in BRCA1 carriers

Katarzyna Durda1*, Anna Jakubowska1, Krzysztof Kąklewski1, Katarzyna Jaworska1,2, Satish Gupta1,2, Tomasz Byrski1, Tomasz Huzarski1, Jacek Gronwald1, Cezary Cybulski1, Tadeusz Dębniak1, Aleksandra Tołoczko1, Oleg Ashuryk1 and Jan Lubiński1

  • * Corresponding author: Katarzyna Durda

Author Affiliations

1 Pomeranian Medical University, Clinic of Oncology, Szczecin, Poland

2 Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland

For all author emails, please log on.

Hereditary Cancer in Clinical Practice 2012, 10(Suppl 3):A6 doi:10.1186/1897-4287-10-S3-A6


The electronic version of this article is the complete one and can be found online at: http://www.hccpjournal.com/content/10/S3/A6


Published:20 April 2012

© 2012 Durda et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Meeting abstract

Recent studies indicate that the selected micro-and macro-elements and vitamins may significantly influence the risk of cancer. Folic acid is necessary for DNA synthesis and repair, plays an important role in one-carbon groups for methylation reactions. The MTHFR gene produces an enzyme important in folate metabolism.

The aim of study was to analyze an association of folic acid concentrations and genetic variants in the MTHFR gene with breast cancer risk in patients with BRCA1 mutation.

Study group consisted of 99 patients with breast or ovarian cancer and 198 healthy women from the paired control group; all cases and controls were carriers of one out of three Polish founder mutations (C61G, 4153delA, 5382insC). Folic acid concentration was quantitatively measured in blood plasma by HPLC chromatography (Flexar HPLC, Perkin Elmer). Two functional SNPs in the MTHFR gene, 677 C>T (rs1801133) and 1298 A>C (rs1801131), both associated with reduced enzyme activity, have been tested on LightCycler 480 (Roche Diagnostic) by Taqman or Simple Probe approach.

The mean levels of folic acid were compared for cases and controls. Women who have level of folic acid in the range of 53.3 mg/l - 83.1 mg/l had a significantly lower risk of breast or ovarian cancer (OR = 0.55, p = 0.0087) – comparison to quartile with the lowest concentration. The analysis of correlation between the level of folic acid and tested genetic variants in the MTHFR gene gave the following results:

- for carriers of MTHFR 1298AA the lowest risk of cancer was for folic acid concentration >81 mg/l (OR = 0,25, p = 0,0292 , CI = 0,07948-0,7863)

- for carriers of MTHFR 1298AA +AC the lowest risk of cancer was for folic acid concentration in the range of 51,44 to 82-82 mg/l (OR = 0,25, p = 0,009, CI = 0,09-0,67)

Acknowledgments

Authors thank Ms. Zdziebło M.