CDKN2A-positive breast cancers in young women from Poland.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Debniak
Tadeusz
T
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, Szczecin, Poland. debniak@wp.pl
Cybulski
Cezary
C
Górski
Bohdan
B
Huzarski
Tomasz
T
Byrski
Tomasz
T
Gronwald
Jacek
J
Jakubowska
Anna
A
Kowalska
Elzbieta
E
Oszurek
Oleg
O
Narod
Steven A
SA
Lubiński
Jan
J
D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000096:biosynthesis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011044:Poland; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011960:Receptors, Estrogen / Q000378:metabolism
D019941:Cyclin-Dependent Kinase Inhibitor p16; D011960:Receptors, Estrogen