TY - JOUR T1 - A common variant of CDKN2A (p16) predisposes to breast cancer JF - Journal of Medical Genetics JO - J Med Genet SP - 763 LP - 765 DO - 10.1136/jmg.2005.031476 VL - 42 IS - 10 AU - T Dębniak AU - B Górski AU - T Huzarski AU - T Byrski AU - C Cybulski AU - A Mackiewicz AU - S Gozdecka-Grodecka AU - J Gronwald AU - E Kowalska AU - O Haus AU - E Grzybowska AU - M Stawicka AU - M Swiec AU - K Urbański AU - S Niepsuj AU - B Waśko AU - S Góźdź AU - P Wandzel AU - C Szczylik AU - D Surdyka AU - A Rozmiarek AU - O Zambrano AU - M Posmyk AU - S A Narod AU - J Lubinski Y1 - 2005/10/01 UR - http://jmg.bmj.com/content/42/10/763.abstract N2 - Background: A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several families with CDKN2A mutations, Objective: To determine whether this variant also predisposes to breast cancer. Methods: Genotyping was undertaken in 4209 cases of breast cancer, unselected for family history, from 18 hospitals throughout Poland and in 3000 controls. Results: The odds ratio (OR) associated with the CDKN2A allele for women diagnosed with breast cancer before the age of 50 was 1.5 (p = 0.002) and after age 50 it was 1.3 (p = 0.2). The effect was particularly strong for patients diagnosed at or before the age of 30 (OR = 3.8; p = 0.0002). Conclusions:CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations. ER -