Show simple item record

dc.contributor.authorMcInerney, N. M.
dc.contributor.authorMiller, N.
dc.contributor.authorRowan, A.
dc.contributor.authorColleran, G.
dc.contributor.authorBarclay, E.
dc.contributor.authorCurran, C.
dc.contributor.authorKerin, M. J.
dc.contributor.authorTomlinson, I. P.
dc.contributor.authorSawyer, E.
dc.date.accessioned2018-09-20T16:17:20Z
dc.date.available2018-09-20T16:17:20Z
dc.date.issued2009-09-18
dc.identifier.citationMcInerney, N. M. Miller, N.; Rowan, A.; Colleran, G.; Barclay, E.; Curran, C.; Kerin, M. J.; Tomlinson, I. P.; Sawyer, E. (2009). Evaluation of variants in the chek2, brip1 and palb2 genes in an irish breast cancer cohort. Breast Cancer Research and Treatment 121 (1), 203-210
dc.identifier.issn0167-6806,1573-7217
dc.identifier.urihttp://hdl.handle.net/10379/12816
dc.description.abstractIt has been proposed that rare variants within the double strand break repair genes CHEK2, BRIP1 and PALB2 predispose to breast cancer. The aim of this study was to evaluate the prevalence of these variants in an Irish breast cancer cohort and determine their contribution to the development of breast cancer in the west of Ireland. We evaluated the presence of CHEK2_1100delC variant in 903 breast cancer cases and 1,016 controls. Six previously described variants within BRIP1 and five within PALB2 were screened in 192 patients with early-onset or familial breast cancer. Where a variant was evident, it was then examined in the remainder of our 711 unselected breast cancer cases. CHEK2_1100delC was found in 5/903 (0.5%) breast cancer cases compared to 1/1016 (0.1%) controls. One mutation at BRIP1 (2392 C > T) was identified in the early-onset/familial cohort. Examination of this variant in the remainder of our cohort (711 cases) failed to identify any additional cases. None of the previously described PALB2 variants were demonstrated in the early-onset/familial cohort. We show evidence of CHEK2_1100delC and BRIP1 2392 C > T within the Irish population. CHEK2_1100delC and BRIP1 mutations incidence in Ireland is similar to that found in other unselected breast cancer cohorts from northern European countries. We found no evidence to suggest that PALB2 mutation is an important breast cancer predisposition gene in this population.
dc.publisherSpringer Nature
dc.relation.ispartofBreast Cancer Research and Treatment
dc.subjectbreast cancer
dc.subjectgenetic susceptibility
dc.subjectwest ireland
dc.subjectchek2
dc.subjectbrip1
dc.subjectpalb2
dc.subjectsusceptibility gene
dc.subjectmutational analysis
dc.subjectovarian-cancer
dc.subjectrisk
dc.subjectpenetrance
dc.subjectfamilies
dc.subjectpopulation
dc.subjectbrca1
dc.subjectpolymorphisms
dc.subjectmetaanalyses
dc.titleEvaluation of variants in the chek2, brip1 and palb2 genes in an irish breast cancer cohort
dc.typeArticle
dc.identifier.doi10.1007/s10549-009-0540-9
dc.local.publishedsourcehttps://hal.archives-ouvertes.fr/hal-00485069/document
nui.item.downloads0


Files in this item

This item appears in the following Collection(s)

Show simple item record