Expressive

rs11548323 - WASF2

Magnitude 2.8 · 1 study on file

Reported associations

  • TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. - Molecular endocrinology (Baltimore, Md.) (2013) · Liu M, Ingle JN, Fridley BL, Buzdar AU, Robson ME, Kubo M, Wang L, Batzler A, Jenkins GD, Pietrzak TL, Carlson EE, Goetz MP, Northfelt DW, Perez EA, Williard CV, Schaid DJ, Nakamura Y, Weinshilboum RM · PubMed 23518928

    We performed a discovery genome-wide association study to identify genetic factors associated with variation in plasma estradiol (E2) concentrations using DNA from 772 postmenopausal women with estrogen receptor (ER)-positive breast cancer prior to the initiation of aromatase inhibitor therapy. Association analyses showed that the single nucleotide polymorphisms (SNP) (rs1864729) with the lowest P value (P = 3.49E-08), mapped to chromosome 8 near TSPYL5. We also identified 17 imputed SNPs in or near TSPYL5 with P values < 5E-08, one of which, rs2583506, created a functional estrogen response element. We then used a panel of lymphoblastoid cell lines (LCLs) stably transfected with ERα with known genome-wide SNP genotypes to demonstrate that TSPYL5 expression increased after E2 exposure of

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • plasma estradiol level measurement Moderate

    rs11548323 directly increases estradiol levels, a modifiable breast cancer risk factor.

    obtain baseline measurement; repeat annually or per provider recommendation

Discuss with your doctor

  • estradiol-related breast cancer risk and screening strategy Moderate

    rs11548323 is associated with elevated estradiol plasma levels, which increases breast cancer risk.

    schedule visit within 3 months to discuss genetic risk and screening optimization

Screening

  • enhanced breast cancer screening protocol Moderate

    genetic predisposition to elevated estradiol increases breast cancer risk relative to average population.

    discuss with provider; may warrant earlier age of first screening or increased frequency