Exploration of Immunology

Table 2. Recurrently investigated germline variants in breast cancer susceptibility studies included in this integrative review.

Gene	Genetic variant	Consequence	No. of papers [references]	Hardy-Weinberg equilibrium < 0.05 [reference]*
TGFB1	rs1800470	Missense variant	4 [15, 16, 27, 34]	2 [15, 27]
	rs1800469	2 kb upstream variant	2 [15, 16]	1 [15]
	rs1800471	Missense variant	2 [15, 16]	1 [15]
IL6	rs1800795	Intron variant	3 [5, 19, 20]	1 [20]
IL6	rs1800797	Non-coding transcript variant	2 [5, 20]	1 [20]
IL1B	rs1143627	2 kb upstream variant	2 [5, 24]	0
IL10	rs1800871	Intron variant	2 [5, 32]	0
CXCL12	rs1801157	3' UTR variant	2 [9, 13]	2 [9, 13]
B7H4	rs10754339	Non-coding transcript variant	2 [12, 33]	1 [33]

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*: Hardy-Weinberg equilibrium in control groups, as reported in the original publications.

Supplementary materials

The supplementary material for this article is available at: https://www.explorationpub.com/uploads/Article/file/1003245_sup_1.pdf. The supplementary table for this article is available at: https://www.explorationpub.com/uploads/Article/file/1003245_sup_2.xlsx.

Declarations

Author contributions

JFV: Conceptualization, Formal analysis, Methodology, Resources, Writing—original draft, Writing—review & editing. MPA: Formal analysis, Methodology, Resources, Writing—original draft, Writing—review & editing. JHV: Formal analysis, Methodology, Resources, Writing—review & editing. All authors read and approved the submitted version.

Conflicts of interest

The authors declare that there are no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

The datasets that support the findings of this study are available from the corresponding author upon reasonable request.

Funding

Not applicable.

Copyright

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