《Nature》文章：揭秘增加乳腺癌發病風險的65個基因區域
在乳腺癌的預防這一方面， 我們得感謝一位好萊塢巨星：安吉麗娜朱莉。 這位因為存在家族遺傳而主動切除乳房的巨星，
我們已知的易感基因中罕見的編碼變體如BRCA1， 以及許多常見的大多數非編碼變異體， 都會影響乳腺癌的風險。 然而， 很多基因在乳腺癌風險中的貢獻卻仍然未知。
而在此次《Nature》上面發表的文章， 研究人員報告了共計122,977例乳腺癌全基因組關聯研究結果， 包括105974例歐洲血統對照組和14,068例對照組和13,104例東亞血統對照組。 研究確定了65個同整體乳腺癌發病風險相關的新基因座。
這些基因座中的大部分可信危險單核苷酸多態性落在遠端調控元件中，
與此同時， 由於調節特徵中的所有單核苷酸多態性， 乳腺癌的遺傳性相對于基因組平均值提高了2-5倍， 對於特定的轉錄因數結合位點有更強的富集性。 研究結果進一步確定了乳腺癌的遺傳易感性， 並會將資料用於改進遺傳風險評分， 以及在個體化篩查和預防中推廣。
以下為研究結果相關資料：
SNP associations with breast cancer risk
Global mapping of biofeatures across novel loci associated with overall breast cancer risk
Pathway enrichment map for susceptibility
loci based on summary association statistics
Heat map showing patterns of cell-type-specific enrichments for breast tissue across three histone marks(H3K4me1, H3K4me3 and H3K9ac) for all breast cancer types,ER-positive breast cancer and ER-negative breast cancer as well as16 other traits
Heat map showing patterns of cell-type-specific enrichments for histone mark H3K27ac in all breast cancer types,ER-positive and ER-negative breast cancer as well as 16 other traits
Heat map showing patterns of cell-type-specific enrichments for histone mark H3K4me1 in all breast cancer types,ER-positive and ER-negative breast cancer as well as 16 other traits.
Heat map showing patterns of cell-type-specific enrichments for histone mark H3K4me3 in breast cancer overall,ER+ and ER- breast cancer as well as 16 other traits
Heat map showing patterns of cell-type-specific enrichments for histone marker H3K9ac in all breast cancer types,ER-positive and ER-negative breast cancer as well as 16 other traits
Functional assessment of regulatory variants
at 1p36, 11p15 and 1p34 risk loci
Functional assessment of regulatory variants
at the 7q22 risk locus. a–e
END
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Heat map showing patterns of cell-type-specific enrichments for histone mark H3K4me1 in all breast cancer types,ER-positive and ER-negative breast cancer as well as 16 other traits.
Heat map showing patterns of cell-type-specific enrichments for histone mark H3K4me3 in breast cancer overall,ER+ and ER- breast cancer as well as 16 other traits
Heat map showing patterns of cell-type-specific enrichments for histone marker H3K9ac in all breast cancer types,ER-positive and ER-negative breast cancer as well as 16 other traits
Functional assessment of regulatory variants
at 1p36, 11p15 and 1p34 risk loci
Functional assessment of regulatory variants
at the 7q22 risk locus. a–e
END
點擊閱讀原文，查看原文獻網址