# Inherited breast cancer in Nigerian women

Source: https://onco.cc/key-papers/paper-zheng-nigerian-inherited-breast-cancer-jco-2018/  
OnCo record `paper-zheng-nigerian-inherited-breast-cancer-jco-2018` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

One in eight of 1,136 Nigerian women with breast cancer carried an inherited mutation in BRCA1, BRCA2, PALB2 or TP53; nearly half of the tumours with receptor data were triple-negative, and BRCA1 carriers were the youngest and most often triple-negative.

## Summary

1,136 women with invasive breast cancer in Ibadan (mean age 47.5) and 997 controls were sequenced with the BROCA panel regardless of age, family history or prior testing. 86.1% of 577 staged patients presented at stage III or IV and 45.9% of 290 with receptor data had TNBC. 14.7% carried a loss-of-function mutation in a breast cancer gene: BRCA1 7.0%, BRCA2 4.1%, PALB2 1.0%, TP53 0.4% and 2.1% in ten other genes. Odds ratios were 23.4 for BRCA1 and 10.3 for BRCA2, with PALB2 (11 cases, no controls) and TP53 (5 cases, no controls) also significant. BRCA1 carriers were younger and more likely to have TNBC.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Journal of Clinical Oncology
- Year: 2018
- DOI: 10.1200/JCO.2018.78.3977
- Authors: Zheng Y, Walsh T, Gulsuner S, et al.
- Findings: Loss-of-function variant in 14.7%: BRCA1 7.0%, BRCA2 4.1%, PALB2 1.0%, TP53 0.4%.; 45.9% of tumours with receptor data were triple-negative; 86.1% presented at stage III or IV.; BRCA1 OR 23.4, BRCA2 OR 10.3; BRCA1 carriers younger and more often triple-negative.
- What it means: West Africa carries the highest germline burden reported for an unselected breast cancer population, and the genes are the same ones that predispose to TNBC elsewhere, so limited genetic services there should start with these families.
- Caveats: Receptor status was available for only 290 patients.; Panel sequencing of loss-of-function variants; missense pathogenic variants may be undercounted.

## Sources

- Zheng et al., J Clin Oncol 2018: inherited breast cancer in 1,136 Nigerian women: https://doi.org/10.1200/JCO.2018.78.3977
- PubMed: https://pubmed.ncbi.nlm.nih.gov/30130155/

## Connected records

- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/), [PALB2](https://onco.cc/targets/palb2/), [TP53](https://onco.cc/targets/tp53/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/)
- journals: [Journal of Clinical Oncology](https://onco.cc/journals/jco/)

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