# Investigating Genomic Differences by Ethnicity in Breast, Colorectal and Prostate Cancers: Secondary Data Analysis of the Genomic Data Commons (GDC) Database

**Authors:** Jack Carr, Mark A. Faghy, David Broom, Ruth E. M. Ashton

PMC · DOI: 10.1002/cam4.71018 · 2025-10-24

## TL;DR

This study finds ethnic differences in cancer gene mutations and survival rates for breast, colorectal, and prostate cancers using genomic data.

## Contribution

The study identifies ethnic-specific gene mutation patterns and survival disparities in three major cancers using the GDC database.

## Key findings

- Black and Asian individuals have higher TP53 mutations in breast cancer compared to Whites.
- Black individuals show higher APC, KRAS, and PIK3CA mutations in colorectal cancer.
- Asian individuals have lower 10-year survival rates for breast cancer mutations compared to other groups.

## Abstract

Globally, millions of cancer cases are diagnosed annually and mortality rates continue to rise with breast (BC), colorectal (CRC) and prostate (PC) cancer among the most prevalent. Race and ethnic disparities in cancer outcomes have been well‐documented; however, the underlying factors contributing to these disparities are currently unknown.

This study utilised the Genomic Data Commons (GDC) Portal, a publicly accessible repository, therefore ethical approval was not required. Cancer incidence data were collected by prevalent gene mutations associated with BC, CRC and PC within White, Black and Asian populations. Rolling one‐year survival rates were constructed for each genetic mutation.

For BC, Black and Asian individuals exhibited higher percentages of cases associated with TP53 mutations compared to Whites. CRC incidence showed Black individuals exhibited higher percentages of cases associated with APC, KRAS and PIK3CA mutations compared to Whites and Asians. PC incidence demonstrated that Black individuals had elevated percentages of cases associated with SPOP, ATM and SYNE1 mutations compared to Whites and Asians. Asian individuals displayed significantly lower survival percentages over 10 years compared to White and Black populations across genetic mutations associated with BC. White individuals exhibited significantly higher survival percentages over 10 years compared to Black individuals across genetic mutations associated with CRC.

Significant disparities exist in cancer incidence and survival rates across White, Black and Asian populations. These findings demonstrate the importance of targeted approaches in cancer prevention, diagnosis and treatment to address disparities and the need for equitable healthcare. Further research is needed to identify mechanisms driving such disparities and to develop effective strategies to improve cancer outcomes across diverse ethnic populations.

## Linked entities

- **Genes:** TP53 (tumor protein p53) [NCBI Gene 7157], APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324], KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845], PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290], SPOP (speckle type BTB/POZ protein) [NCBI Gene 8405], ATM (ATM serine/threonine kinase) [NCBI Gene 472], SYNE1 (spectrin repeat containing nuclear envelope protein 1) [NCBI Gene 23345]
- **Diseases:** breast cancer (MONDO:0004989), colorectal cancer (MONDO:0005575), prostate cancer (MONDO:0005159)

## Full-text entities

- **Genes:** PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290] {aka CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, SYNE1 (spectrin repeat containing nuclear envelope protein 1) [NCBI Gene 23345] {aka 8B, AMC3, AMCM, ARCA1, C6orf98, CPG2}, ATM (ATM serine/threonine kinase) [NCBI Gene 472] {aka AT1, ATA, ATC, ATD, ATDC, ATE}, SPOP (speckle type BTB/POZ protein) [NCBI Gene 8405] {aka BTBD32, NEDMACE, NEDMIDF, NSDVS1, NSDVS2, TEF2}, APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324] {aka BTPS2, DESMD, DP2, DP2.5, DP3, GS}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}
- **Diseases:** Breast, Colorectal and Prostate Cancers (MESH:D001943), prostate (PC) cancer (MESH:D011471), PC (MESH:D015324), Cancer (MESH:D009369), breast (MESH:D061325), colorectal (CRC (MESH:D015179)

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12551590/full.md

---
Source: https://tomesphere.com/paper/PMC12551590