2011
DOI: 10.1158/1940-6207.capr-10-0212
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Constitutional Methylation of the BRCA1 Promoter Is Specifically Associated with BRCA1 Mutation-Associated Pathology in Early-Onset Breast Cancer

Abstract: Women carrying germline mutations in BRCA1 are at a substantially elevated risk of breast cancer and their tumors typically have distinctive morphological features. We hypothesised that constitutional methylation of the BRCA1 promoter region could give rise to such breast cancers in women. We selected 255 women diagnosed with breast cancer before the age of 40 years for whom BRCA1 germline mutations had not been identified. 52 had five or more of nine BRCA1 mutation-associated morphological features (group 1),… Show more

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Cited by 154 publications
(171 citation statements)
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“…1 for summary). The few studies that exist investigating gene-specific methylation in WBC and cancer risk have mostly focused on selected genes for breast cancer and colon cancer but also support the potential for gene-specific methylation measured in WBC as a biomarker of risk [22][23][24][25][26][27] (see Fig. 2 for summary).…”
Section: Wbc Methylation and Diseasementioning
confidence: 98%
“…1 for summary). The few studies that exist investigating gene-specific methylation in WBC and cancer risk have mostly focused on selected genes for breast cancer and colon cancer but also support the potential for gene-specific methylation measured in WBC as a biomarker of risk [22][23][24][25][26][27] (see Fig. 2 for summary).…”
Section: Wbc Methylation and Diseasementioning
confidence: 98%
“…Furthermore, solid architecture, nuclear pleomorphism, geographic necrosis, high mitotic index, and TILs have been described in BRCA1-associated breast carcinomas. [17][18][19][20] This study was undertaken with the hypothesis that routinely assessed morphologic features of ovarian carcinomas are reliably associated with BRCA1 and BRCA2 deficiency states.…”
mentioning
confidence: 99%
“…These results have not always been confirmed by others (Turner et al 2007), but some have extended this work to include even germ line methylation of BRCA1 (Wong et al 2011). One question that arises from studies such as these is that if methylation affects a broad swathe of DNA in a tumour, why would it tend to be accompanied by loss of heterozygosity of one of the two alleles?…”
Section: Hypermethylating the Tubementioning
confidence: 82%