{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T18:58:32Z","timestamp":1770836312293,"version":"3.50.1"},"reference-count":25,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> A common missense variant of the <jats:italic>CDKN2A<\/jats:italic> gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several families with <jats:italic>CDKN2A<\/jats:italic> mutations,<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To determine whether this variant also predisposes to breast cancer.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> Genotyping was undertaken in 4209 cases of breast cancer, unselected for family history, from 18 hospitals throughout Poland and in 3000 controls.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The odds ratio (OR) associated with the <jats:italic>CDKN2A<\/jats:italic> allele for women diagnosed with breast cancer before the age of 50 was 1.5 (p\u200a=\u200a0.002) and after age 50 it was 1.3 (p\u200a=\u200a0.2). The effect was particularly strong for patients diagnosed at or before the age of 30 (OR\u200a=\u200a3.8; p\u200a=\u200a0.0002).<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold>\n                  <jats:italic>CDKN2A<\/jats:italic> appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations.<\/jats:p>","DOI":"10.1136\/jmg.2005.031476","type":"journal-article","created":{"date-parts":[[2005,5,6]],"date-time":"2005-05-06T20:58:54Z","timestamp":1115413134000},"page":"763-765","source":"Crossref","is-referenced-by-count":63,"title":["A common variant of CDKN2A (p16) predisposes to breast cancer: \n            Table 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