A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.

OBJECTIVE: Ovarian cancer (OC) is one of the most common and most lethal gynecological malignancies. OC has an age-dependent incidence and occurs more commonly in females older than 50 years old. Most OC patients are diagnosed at an advanced stage and have a poor prognosis. Germline mutations in the BRCA1 DNA repair associated gene (BRCA1) and the BRCA2 DNA repair associated gene (BRCA2) account for 20%-25% of epithelial ovarian cancer (EOC). BRCA1 germline mutations are more common in Chinese EOC patients. METHODS: This study reported a three-generation Han-Chinese family containing four EOC patients and a rectal adenocarcinoma patient. Whole-exome sequencing was performed on two EOC patients and an unaffected individual. Variant validation was also performed in all available members by Sanger sequencing. RESULTS: A heterozygous splice site variant, c.4358-2A>G in the BRCA1 gene, was identified. Bioinformatic analysis showed that the variant may change the splicing machinery. CONCLUSION: The BRCA1 splice site variant, c.4358-2A>G was identified as the likely genetic cause for EOC, and may also be associated with the increased risk of rectal adenocarcinoma in the family. The findings were beneficial for genetic counseling, helpful for cancer prevention in other family members, and may facilitate therapy decision-making in the future to reduce cancer lethality.

[Correlation of multi-slice CT findings to clinical staging and prognosis of mesenteric blood vessel infarction].

OBJECTIVE: To explore the correlation of multi-slice CT findings to the clinical staging and prognosis of intestinal obstruction due to mesenteric blood vessel infarction. METHODS: Fifty-four patients with intestinal obstruction resulting from infarction of the mesenteric vein or artery underwent multi-slice CT scanning, and the CT findings were analyzed for their relation with the intestinal ischemia and prognosis. RESULTS: Sixteen patients were confirmed to have mesenteric arterial thrombosis (29%) and 40 had mesenteric venous thromboses (71%) by multi-slice CT scanning. The total mortality rate was 29%, of which mesenteric artery infarction took up 87% and mesenteric vein infarction 5%. The prognosis of the patients was closely related to the cause of the bowel infarction. Such CT findings as increased intensity of the intestinal canal and decreased enhancement and thickening of the bowel wall indicated favorable prognosis, whereas the signs of paper-thin wall sign, fecal sign, pneumatosis of the bowel wall, mesenteric veno gas and pneumoperitoneum all suggested poor prognosis. CONCLUSION: Multi-slice CT scanning can identify mesenteric blood vessel infarction resulting in intestinal obstruction, and the CT signs can offer objective and valuable information for clinical staging and prognostic evaluation.