To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 individuals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched samples' subset (829 cases and 990 controls) from the discovery set on the basis of principal component analysis; the follow-up stages included two independent sample sets (1,824 cases and 3,808 controls for follow-up 1 and 2,343 cases and 3,388 controls for follow-up 2). We identified strong evidence of associations between cervical cancer and two new loci: 4q12 (rs13117307, Pcombined, stringently matched=9.69×10(-9), per-allele odds ratio (OR)stringently matched=1.26) and 17q12 (rs8067378, Pcombined, stringently matched=2.00×10(-8), per-allele ORstringently matched=1.18). We additionally replicated an association between HLA-DPB1 and HLA-DPB2 (HLA-DPB1/2) at 6p21.32 and cervical cancer (rs4282438, Pcombined, stringently matched=4.52×10(-27), per-allele ORstringently matched=0.75). Our findings provide new insights into the genetic etiology of cervical cancer.
NACT is a suitable option for patients with cervical cancer, especially for NACT responders and patients with stage IB, which provides a new concept of fertility preservation for young patients.
Ovarian preservation surgery may be safe in SCC patients without suspicious LNM, PMI, and CUI, and in adenocarcinomas in patients who received NACT without FIGO stage IIB disease, bulky tumor size (>4 cm), suspicious PMI, and CUI.
Background
Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely contribute to the application of CNVs screening in clinical practice.
Methods
We developed the Noninvasively Prenatal Subchromosomal Copy number variation Detection (NIPSCCD) method based on low‐pass whole‐genome sequencing, and evaluated its efficacy in detecting fetal CNVs and chromosomal aneuploidies with 20,003 pregnant women.
Results
Totally, NIPSCCD identified 36 CNVs, including 29 CNVs consistent and 7 CNVs inconsistent with amniocytes tests. Additionally, seven fetal CNVs identified by amniocytes testing were undetected by NIPSCCD. The sensitivities for detecting CNVs > 10 Mb, 5 Mb–10 Mb, and CNVs < 5 Mb were 91.67%, 100.00%, and 68.42%, respectively. Moreover, NIPSCCD identified 103/ true positive trisomy 21/18/13 cases and 21 false positives, producing an overall 100.00% sensitivity and 99.89% specificity.
Conclusion
NIPSCCD showed a good performance in detecting fetal subchromosomal CNVs, especially for CNVs >10 Mb, and can be incorporated into the routine NIPT chromosomal aneuploidies screening with high sensitivity and specificity.
BackgroundHuman papillomaviruses (HPVs) are strongly associated with the development of cervical carcinoma, and the distribution of HPV genotypes varies regionally.MethodsTo investigate the distribution characteristics of different genotypes of HPV infection in women in Wuhan, China, a total of 13 775 patients were enrolled over 2 years.ResultsOf these, 2436 patients were infected with HPVs, and the total infection rate was 17.68%. The infection rate of high‐risk HPV (HR‐HPV) was significantly higher (13.96%) than that of single low‐risk HPV (LR‐HPV; 3.72%). Among the HR‐HPV infections, the most common genotype was HPV 52 with an infection rate of 4.23%, followed by HPVs 16, 58, 39, and 51. The most common LR‐HPV genotype was HPV 81, followed by HPVs 6, 11, and 44. Patients under the age of 25 years were found to have the highest HPV infection rate (P < .05). After the age range of 51‐55 years, a downward trend in total HPVs and HR‐HPVs was observed. The HPV infection rate for a single genotype was higher than that for multiple HPVs (P < .01), and the detection rates in summer and winter were significantly higher than those in spring and autumn.ConclusionsThe results demonstrate that the distribution characteristics of various HPV genotype infections are associated with region and age and may be related to season. These data could be the basis for further epidemiological analysis into the control and prevention of HPV infection in this region.
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