PTU - Polskie Towarzystwo Urologiczne
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Polymorphism of n372h in brca2 gene and prostate cancer risk in Poland
Article published in Urologia Polska 2008/61/Supl. 1.


Bartłomiej Gliniewicz, Cezary Cybulski, Adam Goł±b, Andrzej Sikorski, Jan Lubiński
Katedra i Klinika Urologii PAM w Szczecinie
Zakład Genetyki i Patomorfologii PAM w Szczecinie



BRCA2 gene is involved in DNA damage repair. It contains a polymorphic variant at position 1342 (C>A), which results in the substitution of an asparagine (N) with a histidine (H) at position 372. In a previous study the HH genotype was found to be associated with an increased risk of breast cancer, opposite to genotype NN. The role of this polymorphism in the etiology of prostate cancer (PC) is still unknown.


To explore whether this variant influences prostate cancer risk in Polish men.

Materials and methods.

Using RFLP-PCR method we genotyped N372H polymorphism in 588 men with PC and 572 unaffected men from north-west of Poland. 85 patients had one or more first- or second-degree relative with prostate cancer (familial cases). Clinical assessment comprised the age of prostate cancer diagnosis, PSA level at the time of diagnosis (413 cases), Gleason sore (494 cases), and tumor stage (403 cases).


The homozygous HH genotype was found in 43 of 588 (7.3%) sporadic cases compared to 35 of 572 (6.1%) controls. The NN genotype was present in 328 of 588 (55.8%) sporadic cases compared with 352 of 572 (61.5%) controls. It was estimated with the Fisher test that HH cases may posses greater risk of PC, compared with NN patients (OR=1.3, 95%CI 0.8-2.1, p=0.3). Similar correlation was found in familial cases group, with HH and NN genotypes rates 8.2% (7 out of 85) and 57.6%(49 out of 85), respectively (OR=1.4, 95%CI 0.6-3.4, p=0.5). No associations of the studied variant with age of diagnosis, PSA level at the time of diagnosis, tumor stage or Gleason sore were observed.


Our study suggests that the HH genotype in BRCA2 gene may increase the risk of prostate cancer. Aforesaid risk may concern both familial and sporadic cases. N372H polymorphism in BRCA2 gene should be considered as an element of multi-gene predisposition to PC, which may increase the risk of PC of about 30%.