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Epigenome analysis of white blood cells from healthy women with and without BRCA1 mutation.

ABSTRACT: The Illumina Infinium 27k Human DNA methylation Beadchip v1.2 was used to obtain DNA methylation profiles across approximately 27,000 CpGs in white blood cells from women with and without BRCA1 mutation. Whole blood samples were drawn from 30 BRCA1 mutation carriers (15 women with breast cancer and 15 healthy women with mean age 57.2) and 30 females without BRCA1 mutation (15 breast cancers and 15 healthy with mean age 57.1). All samples were collected between 2001 and 2008. The samples were drawn from women attending the General Faculty Hospital in Prague and the complete coding sequence, intron-exon junctions and large rearrangements for BRCA1 and BRCA2 genes were tested.

ORGANISM(S): Homo sapiens

PROVIDER: GSE32396 | GEO | 2012/02/20

SECONDARY ACCESSION(S): PRJNA147949

REPOSITORIES: GEO

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Project description:We obtained peripheral blood samples for women from Utah (USA) and Ontario (Canada) who had a family history of breast cancer (or did not), who carried a BRCA1/2 mutation (or did not), and who had developed breast cancer (or had not). We classified the women into two groups: [1] those who had a family history of breast cancer (irrespective of BRCA1/2 mutation status) and had developed an early-onset breast tumor and [2] those who had a family history of breast cancer but had not developed a breast tumor or who did not have a family history of breast cancer (some of whom had developed sporadic breast cancer and and others who had not). We then used machine-learning methods to assess how well we could classify these women into either group. The Utah samples served as a training set, and the Ontario samples served as an independent validation set from a geographically distinct population. For the Utah cohort, there are 124 samples total: 16 who had a family history of breast cancer and carried a BRCA mutation and had developed breast cancer, 23 with a family history of breast cancer but did not carry a BRCA1/2 mutation and had developed breast cancer, 22 with a family history of breast cancer and carried a BRCA1/2 mutation but had not developed breast cancer, 22 with a family history of breast cancer but did not carry a BRCA1/2 mutation and had not developed breast cancer, 22 with no family history of breast cancer and had developed breast cancer, and 19 with no family history of breast cancer and had not developed breast cancer. The Ontario cohort included 73 samples: 11 who had a family history of breast cancer and carried a BRCA mutation and had developed breast cancer, 17 with a family history of breast cancer but did not carry a BRCA1/2 mutation and had developed breast cancer, 14 with a family history of breast cancer and carried a BRCA1/2 mutation but had not developed breast cancer, 18 with a family history of breast cancer but did not carry a BRCA1/2 mutation and had not developed breast cancer, 8 with no family history of breast cancer and had developed breast cancer, and 5 with no family history of breast cancer and had not developed breast cancer. 36 of the Ontario samples were scanned and processed at Duke University; the remaining 37 samples were handled at Boston University. The batch-adjustment process was repeated twice independently: [1] all 124 Utah samples were adjusted jointly with the 36 Ontario samples that had been processed at Duke University (set 1) and [2] all 124 Utah samples were adjusted jointly with the 37 Ontario samples that had been processed at Boston University (set 2). This dataset represents set 1.

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Epigenome analysis of white blood cells from healthy women with and without BRCA1 mutation.

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