IngentaConnect CDKN2A-positive breast cancers in young women from Poland

Authors: Dębniak, Tadeusz¹; Cybulski, Cezary; Górski, Bohdan; Huzarski, Tomasz; Byrski, Tomasz; Gronwald, Jacek; Jakubowska, Anna; Kowalska, Elżbieta; Oszurek, Oleg; Narod, Steven; Lubiński, Jan

Source: Breast Cancer Research and Treatment, Volume 103, Number 3, July 2007 , pp. 355-359(5)

Publisher: Springer

Abstract:

Purpose: To investigate the contribution of CDKN2A A148T common variant to early-onset breast cancer in Poland, and to establish the characteristic features of these cancers.

Experimental design: We studied 3,069 women diagnosed with breast cancer under the age of 51 and 3,493 population controls. CDKN2A variant were detected using RFLP-PCR and confirmed by genomic sequencing. Clinical and pathological features of CDKN2A-positive cases and CDKN2A-negative cases were compared.

Results: A148T variant was identified in 157 of 3,069 women with breast cancer (5.1%). Overall, the odds ratio for early-onset breast cancer, given a CDKN2A variant was 1.4 (95% CI 1.075-1.725; P = 0.012). Breast tumors in women with the CDKN2A variant were more commonly intraductal cancers (DCIS) with micro-invasion (14.8% vs. 8.5%; P = 0.035). Carriers and non-carriers were similar with respect to tumor size, laterality, multicentricity, nodal status, family history and estrogen-receptor status.

Conclusion: The CDKN2A A148T variant seems to contribute to early-onset breast cancer in Poland. Breast tumors which arise in carriers of A148T variant appear to be similar to those of breast cancers in the population at large.

Keywords: Breast cancer; Tumor characteristics; CDKN2A gene; Germline mutations

Document Type: Research article

DOI: 10.1007/s10549-006-9382-x

Affiliations: 1: Email: debniak@wp.pl

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