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CHEK2-Positive Breast Cancers in Young Polish Women

Cezary Cybulski¹, Bohdan Górski¹, Tomasz Huzarski¹, Tomasz Byrski¹, Jacek Gronwald¹, Tadeusz Dbniak¹, Dominika Wokoorczyk¹, Anna Jakubowska¹, Elbieta Kowalska¹, Oleg Oszurek¹, Steven A. Narod² and Jan Lubiski¹

Authors' Affiliations: ¹ International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland and ² Centre for Research on Women's Health, Toronto, Ontario, Canada

Requests for reprints: Cezary Cybulski, International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul. Poabska 4, 70-115 Szczecin, Poland. Phone: 48-91-466-1532; Fax: 48-91-466-1533; E-mail: cezarycy{at}sci.pam.szczecin.pl.

Purpose: To investigate the contribution of CHEK2 mutations to early-onset breast cancer in Poland and to establish the characteristic features of these cancers.

Experimental Design: We studied 3,228 women diagnosed with breast cancer under the age of 51 years and 5,496 population controls. CHEK2 mutations were detected by RFLP-PCR or allele-specific oligonucleotide-PCR assays. Clinical and pathologic features of CHEK2-positive cases and CHEK2-negative cases were compared.

Results: A truncating CHEK2 mutation (1100delC or IVS2+1G>A) was seen in 47 of 3,228 cases and in 34 of 5,496 controls (odds ratio, 2.4; P = 0.0001). The CHEK2 I157T missense mutation was present in 207 of 3,228 cases, compared with 264 of 5,496 controls (odds ratio, 1.4; P = 0.002). Breast cancers in women with a CHEK2 mutation were more commonly of lobular histology (21.5% versus 15.8%; P = 0.05), of size >2 cm (54.8% versus 43.5%; P = 0.01), or of multicentric origin (28.7% versus 19.5%; P = 0.01) than were cancers from women without a CHEK2 mutation. Bilateral cancers were equally common in both subgroups.

Conclusion: Three founder alleles in CHEK2 contribute to early-onset breast cancer in Poland. Breast tumors which arise in carriers of CHEK2 mutations seem to be similar to those of breast cancers in the population at large.

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