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22.02.2019 | Epidemiology | Ausgabe 2/2019 Open Access

Breast Cancer Research and Treatment 2/2019

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors

Breast Cancer Research and Treatment > Ausgabe 2/2019
Gitana Maria Aceto, Khalid Dafaallah Awadelkarim, Marta Di Nicola, Carmelo Moscatello, Mattia Russel Pantalone, Fabio Verginelli, Nasr Eldin Elwali, Renato Mariani-Costantini
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The online version of this article (https://​doi.​org/​10.​1007/​s10549-019-05168-1) contains supplementary material, which is available to authorized users.

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The role of non-genetic factors as modifiers of TP53-related hereditary breast cancer (BC) risk is debated. In this regard, little is known about the impact of germline TP53 mutations on BC in sub-Saharan Africa, where the disease often presents in non-contraceptive multiparous premenopausal women with extended history of breastfeeding. Herein, we report the germline TP53 mutations found in a series of 92 Sudanese premenopausal BC patients characterized for reproductive history.


The entire TP53 coding sequence, including intron–exon boundaries and UTRs, was analyzed via DHPLC and direct sequencing, and the association of TP53 genotypes with BC risk and with individual lifetime exposures to reproductive factors was investigated with statistical tools.


The germline TP53 mutation spectrum comprised 20 variants, 15 in the non-coding and 5 in the coding region. The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)]. The non-coding mutations included c.919+1G>A, a known deleterious splice site mutation, also in a unique patient. Notably, the 2 carriers of deleterious TP53 mutations clustered in the subset of cases with stronger reproductive history relative to childbearing age. When analyzed in comparison to population controls, the codon 72 polymorphism did not reveal associations with BC.


Our study suggests that the codon 72 Arg>Pro polymorphism is not implicated in premenopausal BC susceptibility, whereas multiparity and breastfeeding might be BC risk factors for carriers of deleterious TP53 mutations.

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