ArticleLife (Basel, Switzerland)2026
Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.
Article in Life (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundGermline pathogenic variants in
methodsThis retrospective cohort study included 259 Aboriginal women and 789 age- and remoteness-matched non-Aboriginal women diagnosed with breast cancer (2001-2016). We assessed family history, genetic service referral and testing rates, and pathogenic variant rates in the context of testing access.
resultsFamily history data were available for more Aboriginal than non-Aboriginal cases (46% vs. 34%,
conclusionsPathogenic genetic variants were detected less frequently in Aboriginal women, although, in keeping with international clinical practice, most women diagnosed with breast cancer were not tested. Given that only a small proportion of the cohort underwent germline testing, this study cannot distinguish whether the lower detection rate reflects a genuinely lower population level prevalence of pathogenic variants or differences in historical referral, selection, and testing practices. These findings are hypothesis-generating and require validation in larger Australian Aboriginal studies including unselected populations with whole-population testing data.
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