Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Background: Hereditary breast cancer is characterised by the presence of a pathogenic sequence variant passed from one generation to the next. These cancers are aggressive, develop early, and account for 5 - 10% of all breast cancer cases. In South Africa (SA), the common variants that predispose to hereditary breast cancer have been well documented among white patients and form part of screening panels during targeted testing.

Recent trends in hereditary breast cancer incidence by race and age in KwaZulu-Natal, South Africa: An 11-year single-centre retrospective study (2011-2021).

Breast cancer incidence has increased globally in the last decade, especially in low- and middle-income countries. In Sub-Saharan Africa, breast cancer trends have been described only in a few populations owing to the scarcity of population-specific data. Using data collected between 2011 and 2021 at Inkosi Albert Luthuli Central Hospital, this retrospective study describes demographic and genetic trends for hereditary breast cancer patients in the KwaZulu-Natal province, South Africa.

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

The South African genetic screening services for breast cancer comprise targeted and comprehensive tests that screen for the presence of genetic alterations. Clinically, these variants determine the risk of disease development as well as treatment approaches best suited for carriers. The current targeted tests screen for seven pathogenic sequence variants, which are mainly common among Whites, a population that constitutes 9.