Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Mar 1;10(3):1098-1103.
doi: 10.1210/jc.2015-3928. Epub 2015 Dec 21.

The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer

Ruta Sahasrabudhe  1 , Jacob Stultz  1 , John Williamson  1 , Paul Lott  1 , Ana Estrada  2 , Mabel Bohorquez  2 , Claire Palles  3 , Guadalupe Polanco-Echeverry  1   4 , Emma Jaeger  3 , Lynn Martin  3 , Maria Magdalena Echeverry  2 , Ian Tomlinson  3 , Luis G Carvajal-Carmona  1   2   4 ; TCUKIN
Affiliations

The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer

Ruta Sahasrabudhe et al. J Clin Endocrinol Metab. .

Abstract

Context: A recent study reported the non-synonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial non-medullary thyroid cancer (NMTC).

Objective: The objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multi-center population based study of NMTC cases from the British Isles.

Design and setting: A case-control analysis of rs7080536 genotypes was performed using 2,105 TCUKIN cases and 5,172 UK controls.

Participants: Cases comprised 2,105 NMTC cases. Patients sub-groups with papillary (N=1,056), follicular (N=691) and Hurthle cell (N=86) TC cases were studied separately. Controls comprised 5,172 individuals from the 1958 Birth Cohort (58C) and the National Blood Donor Service (NBS) study. The controls had previously been genotyped using genome-wide SNP arrays by the Wellcome Trust Case Control Consortium study.

Outcome: Measures: Association between HABP2 G534E (rs7080536A) and NMTC risk was evaluated using logistic regression.

Results: The frequency of HABP2 G534E was 4.2% in cases and 4.6% in controls. We did not detect an association between this variant and NMTC risk (OR=0.896, 95% CI: 0.746-1.071, P=0.233). We also failed to detect an association between HABP2 G534E and cases with papillary (1056 cases, G534E frequency= 3.5%, OR=0.74, P=0.017), follicular (691 cases, G534E frequency= 4.7%, OR=1.00, P=1.000) or Hurthle cell (86 cases, G534E frequency= 6.3%, OR=1.40, P=0.279) histology.

Conclusions: We found that HABP2 G534E is a low-to-moderate frequency variant in the British Isles and failed to detect an association with NMTC risk, independent of histological type. Hence, our study does not implicate HABP2 G534E or a correlated polymorphism in familial NMTC and additional data are required before using this variant in NMTC risk assessment.

PubMed Disclaimer

References

    1. Rahib L, Smith BD, Aizenberg R, Rosenzweig AB, Fleshman JM, Matrisian LM. Projecting cancer incidence and deaths to 2030: the unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res. 2014;74:2913–2921. - PubMed
    1. Ferlay J, Soerjomataram I, Dikshit R, et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 2015;136:E359–E386. - PubMed
    1. Siegel RL, Fedewa SA, Miller KD, et al. Cancer statistics for Hispanics/Latinos, 2015. CA Cancer J Clin. 2015;65(6):457–480. - PubMed
    1. Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst. 1994;86:1600–1608. - PubMed
    1. Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Discovery of common variants associated with low TSH levels and thyroid cancer risk. Nat Genet. 2012;44:319–322. - PMC - PubMed