过去十年，乳腺癌全球发病率上升，尤其是在低收入和中等收入国家。由于针对特定人群数据的稀缺性，撒哈拉以南非洲仅对少数人群进行了乳腺癌趋势描述。本回顾性研究利用2011年至2021年在南非科瓦祖鲁纳塔尔省的Inkosi Albert Luthuli中央医院收集的数据，描述了乳腺癌遗传病患者的人口统计和遗传趋势。共纳入645例患者，其中44.3%为黑人，36.8%为印度人，15.6%为白人，3.2%为有色人种。近十年，每年新增病例数量从2011年的8例增加到2021年的145例，其中黑人患者数量显著增加。平均发病年龄为46岁，黑人患者的诊断年龄比白人和印度人提前约10年。三阴性乳腺癌占遗传病例的20.3%，其中51.1%为黑人。双侧和复发性乳腺癌占7.4%，BRCA1/2中发病性序列变异占所有患者的10.4%，其中大多数是黑人和印度人。总体而言，科瓦祖鲁纳塔尔省的遗传性乳腺癌发病率在过去十年有所上升。尽管无发病性序列变异，但黑人女性经常出现类似BRCA1的乳腺癌，而印度人则表现出广泛的家族史。这表明南非患者可能需要独特的干预方法，如加强黑人的早期检测和意识计划，以及增加印度人的遗传筛查。

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. Six hundred and forty-five patients were included, of whom 44.3% were Black, 36.8% Indian, 15.6% White and 3.2% Coloured. The number of annual new cases increased from eight in 2011 to 145 in 2021, with a notable increase among Blacks. The mean onset age was 46 years, and Black patients were diagnosed ~10 years earlier than White and Indian patients. Triple-negative breast cancers accounted for 20.3% of hereditary cases, and 51.1% of them were Black. Bilateral and recurrent breast cancers constituted 7.4%, while pathogenic sequence variants in BRCA1/2 were reported in 10.4% of all patients, and the majority were Blacks and Indians. Overall, the KwaZulu-Natal province has seen an increase in hereditary breast cancer incidence in the past decade. Despite testing negative for pathogenic sequence variants, Black women frequently presented with breast cancers that are BRCA1-like, while Indians presented with extensive family history. This suggests that South African patients may require unique approaches to interventions, such as early detection and awareness programs among Blacks and increased genetic screening among Indians.© 2023 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.