Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2005 Oct;42(10):763-5.
doi: 10.1136/jmg.2005.031476. Epub 2005 May 6.

A common variant of CDKN2A (p16) predisposes to breast cancer

T Debniak  1 , B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbański, S Niepsuj, B Waśko, S Góźdź, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, J Lubinski
Affiliations

A common variant of CDKN2A (p16) predisposes to breast cancer

T Debniak et al. J Med Genet. 2005 Oct.

Abstract

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.

PubMed Disclaimer

References

    1. J Natl Cancer Inst. 2000 Aug 2;92(15):1260-6 - PubMed
    1. Cancer Res. 2005 Feb 1;65(3):835-9 - PubMed
    1. Cancer Lett. 2001 Feb 10;163(1):59-69 - PubMed
    1. Lab Invest. 2001 Feb;81(2):217-29 - PubMed
    1. Acta Biochim Pol. 2002;49(2):369-76 - PubMed

Substances