近年来，已有多项研究证据表明早期结肠癌在年轻人中的患病率呈现增长趋势。在这一背景下，本研究旨在分析沙特一家单一同姓内含同血统结肠癌复发的原因，该家族包括四代人。为了进行这项研究，作者们对同姓家族中的同血统病例的DNA样本进行全外显子测序分析，以筛查其体细胞系变突变。在采集了结肠样本后，通过组织学和免疫组化分析，使用了乳腺癌抗体（BRCA2和BRCA1）以及H&M染色（苏木精和伊红）进行分析。本研究共考虑了26个有风险的同血统病例。其中三例被诊断为恶性结肠癌，两例为乳腺癌，17例患有细胞系变突变，但未受到肿瘤的影响。剩下的四个同姓病例身体健康且没有携带这些突变。然而，根据外显子分析结果显示，15例携带9个基因的体细胞系变突变。这些患者中，有六个遗传基因中的九个基因出现了九个替代突变。此外，五个遗传基因中的九个基因中还出现了六个插入和缺失全移突变。免疫组化染色结果显示BRCA1和BRCA2呈阳性染色。因此，从这九个基因中遗传的体细胞系变突变，是同一家族结肠癌复发的主要原因。

Various research pieces of evidence have been published in recent years, establishing the increasing prevalence of early colon cancer among young people. In this background, the current study aimed to analyze the reasons behind colon cancer recurrence among endogamous consanguineous cases in four generations of a single Saud family. For this study, the authors conducted the whole-exome sequencing analysis to screen for germline mutations in DNA samples from consanguineous cases within the family. After collecting the colon samples, it was analyzed histologically and immunohistochemically with the help of Breast Cancer antibodies (BRCA2 and 1 correspondingly) and H&M staining (hematoxylin and eosin). For this study, 26 at-risk consanguineous cases were considered. Three cases were diagnosed with malignant colon cancer, two with breast cancer, and 17 with germline mutations, yet remain unaffected by cancerous tumors. The rest, four consanguineous cases, are healthy and non-carriers of the mutations. However, as per the exome analysis outcomes, 15 cases inherited germline mutations in nine genes. Nine substitution mutations were present in six of the nine inherited genes in these inherited germline mutations. Furthermore, it also presented six insertion and deletion frameshift mutations in five of nine inherited genes. The immunohistochemical staining process achieved positive staining outcomes for BRCA1 and 2. Therefore, germline mutations inherited from the nine genes of endogamous consanguineous cases of mutation carriers remain the primary reason behind colon cancer recurrence in the same family.