Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank

Abstract

Germline HOXB13 G84E mutation has been consistently associated with prostate cancer (PCa) risk, but its association with other cancers is controversial. We systematically tested its association with the 20 most common cancer types in subjects from the UK Biobank. The G84E mutation was found in 1,545 (0.34%) of 460,224 participants of European ancestry. While mutation status did not associate with cancer risk in females, it was significantly associated with increased risk in males; odds ratio (OR) (95% confidence interval) for overall cancer diagnosis was 2.19 (1.89–2.52), P = 2.5E-19. The association remained after excluding PCa; OR = 1.4 (1.16–1.68), P = 0.003, suggesting association with other cancers. Indeed, suggestive novel associations were found for two other cancer types; rectosigmoid cancer, OR = 2.25 (1.05–4.15), P = 0.05 and non-melanoma skin cancer (NMSC), OR = 1.40 (1.12–1.74), P = 0.01. For NMSC, the association was found only in basal cell carcinoma, OR = 1.37 (1.07–1.74), P = 0.03. These findings have potential clinical utility for genetic counselling regarding HOXB13.

Document Details

Document Type
Pub Defense Publication
Publication Date
Aug 24, 2020
Source ID
10.1038/s41416-020-01036-8

Entities

People

  • Brian T. Helfand
  • Chi-hsiung Wang
  • Jianfeng Xu
  • Jun Wei
  • Kathleen A. Cooney
  • Peter J. Hulick
  • Rong Na
  • S. Lilly Zheng
  • W. Kyle Resurreccion
  • William B Isaacs
  • Zhuqing Shi

Organizations

  • NorthShore University HealthSystem
  • United States Department of Defense

Tags

Fields of Study

  • Biology
  • Medicine

Readers

  • Molecular and genetic basis of cancer.
  • Women's Health and Cancer Risk Research: African American Women and Pregnancy Outcomes.

Technology Areas

  • Biotechnology