RT Journal Article
SR Electronic
T1 A common variant of CDKN2A (p16) predisposes to breast cancer
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 763
OP 765
DO 10.1136/jmg.2005.031476
VO 42
IS 10
A1 T Dębniak
A1 B Górski
A1 T Huzarski
A1 T Byrski
A1 C Cybulski
A1 A Mackiewicz
A1 S Gozdecka-Grodecka
A1 J Gronwald
A1 E Kowalska
A1 O Haus
A1 E Grzybowska
A1 M Stawicka
A1 M Swiec
A1 K Urbański
A1 S Niepsuj
A1 B Waśko
A1 S Góźdź
A1 P Wandzel
A1 C Szczylik
A1 D Surdyka
A1 A Rozmiarek
A1 O Zambrano
A1 M Posmyk
A1 S A Narod
A1 J Lubinski
YR 2005
UL http://jmg.bmj.com/content/42/10/763.abstract
AB 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.