Genome-wide association study of germline variants and breast cancer-specific mortality.

British Journal of Cancer
Maria Escala-GarciaMarjanka K Schmidt

Abstract

We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breas...Continue Reading

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Citations

May 21, 2019·Journal of Dental Research·L NibaliA R Vieira
Jan 18, 2020·Nature Communications·Maria Escala-GarciaMarjanka K Schmidt
Jan 8, 2021·Human Molecular Genetics·Ernest MangantigMatthew H Law
Nov 18, 2020·BMC Medicine·Maria Escala-GarciaMarjanka K Schmidt
Feb 19, 2021·Nature Communications·Juliette CoignardAntonis C Antoniou
Apr 23, 2021·The International Journal of Biological Markers·Erika KorobeinikovaElona Juozaityte
Aug 25, 2021·Cold Spring Harbor Perspectives in Medicine·Rebecca C Richmond, George Davey Smith

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Methods Mentioned

BETA
chip
genotyping

Software Mentioned

Bedtools
IMPUTE2
ProbABEL
SHAPEIT
MACH
OncoArray
KMplotter
LAMP

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