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Thus, mutations in other genes confer genetic susceptibility to breast cancer, of which<jats:italic>CHEK2<\/jats:italic>is a plausible candidate.<jats:italic>CHEK2<\/jats:italic>encodes a checkpoint kinase, involved in response to DNA damage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study we assessed the prevalence of<jats:italic>CHEK2<\/jats:italic>germ line mutations in 145<jats:italic>BRCA1\/2<\/jats:italic>-negative early-onset and familial breast\/ovarian cancer patients from Pakistan (Group 1). Mutation analysis of the complete<jats:italic>CHEK2<\/jats:italic>coding region was performed using denaturing high-performance liquid chromatography analysis, followed by DNA sequencing of variant fragments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two potentially deleterious missense mutations, c.275C&gt;G (p.P92R) and c.1216C&gt;T, (p.R406C), were identified (1.4%). The c.275C&gt;G mutation is novel and has not been described in other populations. It was detected in a 30-year-old breast cancer patient with a family history of breast and multiple other cancers. The c.1216C&gt;T mutation was found in a 34-year-old ovarian cancer patient from a family with two breast cancer cases. Both mutations were not detected in 229 recently recruited<jats:italic>BRCA1\/2<\/jats:italic>-negative high risk patients (Group 2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings suggest that<jats:italic>CHEK2<\/jats:italic>mutations may not contribute significantly to breast\/ovarian cancer risk in Pakistani women.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2407-13-312","type":"journal-article","created":{"date-parts":[[2013,6,27]],"date-time":"2013-06-27T14:14:35Z","timestamp":1372342475000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Constitutional CHEK2mutations are infrequent in early-onset and familial breast\/ovarian cancer patients from Pakistan"],"prefix":"10.1186","volume":"13","author":[{"given":"Muhammad U","family":"Rashid","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noor","family":"Muhammad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saima","family":"Faisal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asim","family":"Amin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Hamann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,6,27]]},"reference":[{"key":"3954_CR1","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/S1535-6108(03)00110-7","volume":"3","author":"J Bartek","year":"2003","unstructured":"Bartek J, Lukas J: Chk1 and Chk2 kinases in checkpoint control and cancer. 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