This study focuses on the descendants of the royal Inka family. The Inkas ruled Tawantinsuyu, the largest pre-Columbian empire in South America, which extended from southern Colombia to central Chile. The origin of the royal Inkas is currently unknown. While the mummies of the Inka rulers could have been informative, most were destroyed by Spaniards and the few remaining disappeared without a trace. Moreover, no genetic studies have been conducted on present-day descendants of the Inka rulers. In the present study, we analysed uniparental DNA markers in 18 individuals predominantly from the districts of San Sebastian and San Jerónimo in Cusco (Peru), who belong to 12 families of putative patrilineal descent of Inka rulers, according to documented registries. We used single-nucleotide polymorphisms and short tandem repeat (STR) markers of the Y chromosome (Y-STRs), as well as mitochondri...

Background Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA 1 and BRCA 2 germline mutations. Methods We performed a comprehensive analysis of BRCA 1 and BRCA 2 genes by Sanger sequencing and multiplex ligation‐dependent probe amplification (MLPA ) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer. Results In this series, we found four pathogenic mutations, three previously reported (BRCA 1 : c.302‐1G>C and c.815_824dup10; BRCA 2 : c.5946delT) and a duplication of adenines in exon 15 in BRCA 1 gene (c.4647_4648dupAA , ClinVar SCV 000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants. Conclusion ...