PMID,Authors,Title,Abstract,Journal_Title,Volume_Issue_Page,Publication_Year,Publication_Type,Mesh_Terms,Genes,Affiliation,Chemicals,Grant_Agency,Grant_Country,Grant_ID,Keyword
33262833,"Nguyen HT,Le DT,Duong QH,Tatipamula VB,Van Nguyen B",High frequency of microsatellite instability and its substantial co-existence with and mutations in Vietnamese patients with colorectal cancer.,"Tumor heterogeneity and resistance to chemotherapy have been recognized as two major obstacles in the diagnosis and treatment of colorectal cancer (CRC). Microsatellite instability (MSI) and KRAS and BRAF mutations are common diagnostic factors that have been widely used to classify CRC for therapeutics. In the present study, 151 patients with CRC were analyzed from the two most populous ethnic groups of Vietnam, Kinh and Muong, for their MSI status, frequency of KRAS and BRAF mutations, and their clinical implications. MSI-high (MSI-H) was detected in 45.0% (68/151), while mutated KRAS and BRAF were identified in 37.1% (56/151) and 2.6% (4/151) of the cases, respectively. There was a substantial co-existence of MSI-H with KRAS (27/56; 48.2%) and BRAF (3/4; 75.0%) mutations. Statistical analysis showed that MSI-H tumors were significantly associated with colon location (P=0.011) and more advanced T stages (P=0.016). KRAS exon 2 mutations were significantly more likely to be detected in patients who belonged to the Muong ethnic group (P=0.013) or those with no/fewer lymph node metastasis (P=0.048) as compared with their counterparts. In summary, the data revealed typical molecular features of Vietnamese patients with CRC, including a strikingly high rate of MSI-H and its high co-existence with KRAS and BRAF mutations, which should be carefully considered in the future therapeutics for this type of cancer.",Oncology letters,vol.21:1:41,2021,Journal Article,,,"Institute of Research and Development\, Duy Tan University\, Danang 550000\, Vietnam.,Institute for Global Health Innovations\, Duy Tan University\, Danang 550000\, Vietnam.,Laboratory Center\, Hanoi University of Public Heath\, Hanoi 100000\, Vietnam.,Institute of Research and Development\, Duy Tan University\, Danang 550000\, Vietnam.,Anapathology Department\, Hue Central Hospital\, Hue 530000\, Vietnam.",,,,,"BRAF mutation,KRAS mutation,clinical implications,colorectal cancer,microsatellite instability"
33299797,"Rabinowitz MJ,Kohn TP,Peña VN,Samarska IV,Matoso A,Herati AS",Onset of azoospermia in man treated with ipilimumab/nivolumab for BRAF negative metastatic melanoma.,"Azoospermia is classified as the complete absence of sperm in ejaculate and accounts for 10-15% of male infertility. Many anticancer drugs are known to cause defects in spermatogenesis, but the effects of immune checkpoint inhibitor cancer therapy on spermatogenesis remains largely unknown. Presented here is a normozoospermic man (60 million sperm/cc of ejaculate) who received a trial combination treatment of Ipilimumab/Nivolumab to treat BRAF negative, stage IV metastatic melanoma. Two years after the treatment, the patient presented as completely azoospermic. The patient subsequently underwent microdissection testicular sperm extraction, during which no sperm was retrieved, and sertoli-only pathology was elucidated.",Urology case reports,vol.34::101488,2021,Case Reports,,,"Brady Urological Institute\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.,Brady Urological Institute\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.,Brady Urological Institute\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.,Department of Pathology\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.,Department of Pathology\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.,Brady Urological Institute\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, USA.",,,,,"Azoospermia,BRAF,CTLA-4\, Cytotoxic T-Lymphocyte antigen-4,ICI\, immune checkpoint inhibitor,Immunotherapy,Infertility,Male,SA\, semen analysis,immune Checkpoint inhibitor therapy,mTESE\, microscopic testicular sperm extraction"
32951290,"Bubola J,Antonescu CR,Weinreb I,Swanson D,De Almeida JR,MacMillan CM,Dickson BC",A novel low-grade nasopharyngeal adenocarcinoma characterized by a GOLGB1-BRAF fusion gene.,"Nasopharyngeal adenocarcinoma is a rare malignancy that is classified into conventional/surface- and salivary-types. Herein we report the case of a 52-year-old male who presented with a right nasopharyngeal mass and right-sided hearing loss. Diagnostic imaging revealed a circumscribed 1.7 cm mass centred in the right antero-lateral aspect of the nasopharynx. A biopsy showed a gland-forming neoplasm that was in continuity with the surface epithelium. The tumor exhibited a nested to micro-papillary architecture, with mild cytologic atypia. Immunohistochemistry demonstrated diffuse staining for CK7, SOX10, and p16; the abluminal layer was highlighted by CK5 and p63, while the luminal cells expressed CD117. The tumor was not amenable to subclassification and was diagnosed as a low-grade nasopharyngeal adenocarcinoma, not otherwise specified (NOS). Subsequent RNA sequencing was performed which identified a novel GOLGB1-BRAF fusion product. Based on its unique morphology and molecular findings, this is presumed to represent a novel subtype of nasopharyngeal adenocarcinoma. In addition to being of diagnostic relevance, this fusion may ultimately represent a potential therapeutic target.","Genes, chromosomes & cancer",vol.60:1:49-53,2021,Journal Article,,,"Department of Pathology and Laboratory Medicine\, Mount Sinai Hospital\, Toronto\, Ontario\, Canada.,https://orcid.org/0000-0002-9717-8205Department of Pathology\, Memorial Sloan Kettering Cancer Center\, New York\, New York\, USA.,https://orcid.org/0000-0001-9552-3549Department of Pathology\, University Health Network\, Toronto\, Ontario\, Canada.,Department of Pathology and Laboratory Medicine\, Mount Sinai Hospital\, Toronto\, Ontario\, Canada.,Department of Otolaryngology Head and Neck Surgery\, Department of Surgical Oncology\, University Health Network\, Toronto\, Ontario\, Canada.,Department of Pathology and Laboratory Medicine\, Mount Sinai Hospital\, Toronto\, Ontario\, Canada.,https://orcid.org/0000-0003-2269-6216Department of Pathology and Laboratory Medicine\, Mount Sinai Hospital\, Toronto\, Ontario\, Canada.",,Panov 2 Research Fund,,,"BRAF,GOLGB1,nasopharyngeal adenocarcinoma"
33469371,"Miao X,Liu Y,Fan Y,Wang G,Zhu H",LncRNA BANCR Attenuates the Killing Capacity of Cisplatin on Gastric Cancer Cell Through the ERK1/2 Pathway.,"Chemotherapy-based comprehensive treatments are the most important therapeutic methods for patients with advanced gastric cancer\, but chemoresistance often cause treatment failure. Long non-coding RNA (LncRNA) BRAF-activated non-coding RNA (BANCR) has been shown to participate in many biological behaviors of multiple cancers. However\, the biological roles of LncRNA BANCR in chemoresistance of gastric cancer remain unclear. Here\, we aimed to evaluate the functions of LncRNA BANCR on the therapy of gastric cancer.,In this study\, LncRNA BANCR expression was detected in gastric cancer patient samples and cell lines by quantity polymerase chain reaction (qPCR). Cell proliferation and viability in cisplatin-treated cells were measured using clonogenic survival assay and cell counting kit-8. The levels of ERK1/2 pathway molecules were tested with Western blot. Ly3214996\, an inhibitor of ERK signal pathway\, was administered to assess the effects of BANCR overexpression on gastric cancer cell with cisplatin-treated resistance. Moreover\, the role of BANCR in cisplatin resistance of gastric cancer was validated in xenograft mouse models in vivo.,Our study revealed that LncRNA BANCR expression was also significantly increased in gastric cancer tissues compared with adjacent normal tissues. Furthermore\, we found that BANCR overexpression promoted gastric cancer cell resistance to cisplatin in vitro. Ly3214996 treatment abolished the BANCR overexpression-mediated gastric cancer cell cisplatin resistance via regulating the phosphorylation of ERK protein. Knock-down of BANCR significantly delayed tumor growth in xenograft mouse models.,BANCR promoted cisplatin resistance of gastric cancer cells by activating ERK1/2 pathway. Inhibition of BANCR markedly suppressed the growth of gastric cancer cells in vitro as well as in vivo. These results provided a new strategy for gastric cancer therapy via targeting BANCR.",Cancer management and research,vol.13::287-296,2021,Journal Article,,,"0000-0002-9299-8415Department of General Surgery\, Lianyungang Municipal Oriental Hospital\, Lianyungang\, Jiangsu 222042\, People's Republic of China.,0000-0002-9262-1837Department of General Surgery\, Lianyungang Municipal Oriental Hospital\, Lianyungang\, Jiangsu 222042\, People's Republic of China.,0000-0003-2276-8152Department of General Surgery\, Lianyungang Municipal Oriental Hospital\, Lianyungang\, Jiangsu 222042\, People's Republic of China.,0000-0001-7849-6139Department of General Surgery\, Lianyungang Municipal Oriental Hospital\, Lianyungang\, Jiangsu 222042\, People's Republic of China.,0000-0002-1928-8505Department of General Surgery\, Lianyungang Municipal Oriental Hospital\, Lianyungang\, Jiangsu 222042\, People's Republic of China.",,,,,"BANCR,ERK1/2 pathway,chemoresistance,cisplatin,gastric cancer"
33469503,"Dolatkhah R,Dastgiri S,Eftekhar Sadat AT,Farassati F,Nezamdoust M,Somi MH",Impact of mutations on clinical and prognostic outcomes in metastatic colorectal cancer.,"Introduction: Early-activated RAS/RAF mutation status is a key molecular finding in colorectal cancer (CRC), while these mutations have been proposed as predictive and prognostic biomarkers. The present study has been designed as a longitudinal study to evaluate and summarize the different genotypes of metastatic CRC (mCRC), and assessing any association with the disease prognosis and clinicopathological characteristics. This study was performed in two main referral hospitals of Tabriz University of Medical Sciences, over three years (2016-2018). Methods: Mutations were detected by Idylla tests of KRAS/NRAS/BRAF among a total of 173 mCRCs, using surgically-resected specimens or biopsied samples. To evaluate the factors associated with overall survival (OS) and prognosis, the Cox proportional hazards model was used in two steps to estimate the outcome measures (hazard ratio, or HR) with a 95% confidence interval (CI). Results: The nominal 1 to 5-year OS rates were 78%, 65%, 55%, 46%, and 42%, respectively. KRAS mutations in codon 12 was an independent significant prognostic factor, as the patients with codon 12 mutations had a significantly lower OS (P Log-rank=0.049) and a higher hazard of mortality (HR=2.30; 95% CI: 0.95-5.58; P =0.066). Also, the mCRC patients with liver metastasis (HR=2.49; 95% CI: 1.49-12.52; P =0.002) and tumors of the distal colon (HR=3.36; 95% CI: 1.07-10.49; P =0.037) had a significantly worse prognosis. Conclusion: KRAS mutation in codon 12 was an independent significant poor prognostic factor, and patients with liver metastasis had a significantly worse prognosis. Routinely performing specific oncogenic tests may help improve the patients' prognosis and life expectancy.",BioImpacts : BI,vol.11:1:5-14,2021,Journal Article,,,"https://orcid.org/0000-0002-6897-7120Hematology and Oncology Research Center\, Tabriz University of Medical Sciences\, Tabriz\, Iran.,https://orcid.org/0000-0002-8129-9125Tabriz Health Services Management Research Center\, Tabriz University of Medical Sciences\, Tabriz\, Iran.,Liver and Gastrointestinal Diseases Research Center\, Tabriz University of Medical Sciences\, Tabriz\, Iran.,Midwest Biomedical Research Foundation\, Kansas City\, MO\, USA.,Tabriz University of Medical Sciences\, Tabriz\, Iran.,https://orcid.org/0000-0002-6611-9958Liver and Gastrointestinal Diseases Research Center\, Tabriz University of Medical Sciences\, Tabriz\, Iran.",,,,,"Colorectal cancer,Hazard ratio,KRAS,Oncogene,Overall survival"
32602215,"Zhang W,Mathisen M,Goodman GR,Forbes H,Song Y,Bertran E,Demidov L,Shin SJ","Effect of Itraconazole, a Potent CYP3A4 Inhibitor, on the Steady-State Pharmacokinetics of Vemurafenib in Patients With BRAF Mutation-Positive Malignancies.","The effects of itraconazole, a strong CYP3A4 inhibitor, on the steady-state pharmacokinetics of vemurafenib were evaluated in a phase 1, multicenter, open-label, fixed-sequence study. Patients with BRAFV600 mutation-positive metastatic malignancies received oral vemurafenib 960 mg twice daily on days 1 to 20 (period A) and oral vemurafenib 960 mg twice daily with oral itraconazole 200 mg once daily on days 21 to 40 (period B). A mixed-effects analysis of variance model was used to compare log-transformed area under the concentration-time curve during the dosing interval and maximum plasma concentration values for vemurafenib in 8 patients between period B (vemurafenib plus itraconazole) and period A (vemurafenib alone). Multiple doses of itraconazole increased steady-state exposure of vemurafenib by approximately 40%, with geometric least squares mean ratios (period B/period A) of 140% (90% confidence interval, 121-161) for both maximum plasma concentration and area under the concentration-time curve during the dosing interval. There was no apparent increase in incidence or severity of adverse events during coadministration of vemurafenib with itraconazole. In conclusion, coadministration of itraconazole with vemurafenib resulted in a modest increase in exposure of vemurafenib at steady state and was generally well tolerated.",Clinical pharmacology in drug development,vol.10:1:39-45,2021,Journal Article,,,"F. Hoffmann-La Roche Ltd.\, New York\, New York\, USA.,Genentech\, Inc.\, South San Francisco\, California\, USA.,Genentech\, Inc.\, South San Francisco\, California\, USA.,F. Hoffmann-La Roche Ltd.\, Mississauga\, Ontario\, Canada.,F. Hoffmann-La Roche Ltd.\, Mississauga\, Ontario\, Canada.,F. Hoffmann-La Roche Ltd.\, Basel\, Switzerland.,N. N. Blokhin Medical Research Center of Oncology\, Moscow\, Russia.,Division of Medical Oncology\, Yonsei University College of Medicine\, Seoul\, Republic of Korea.",,,,,"CYP3A4,drug-drug interactions,itraconazole,pharmacokinetics,vemurafenib"
32984984,"Zhao W,He L,Zhu J,Su A",A nomogram model based on the preoperative clinical characteristics of papillary thyroid carcinoma with Hashimoto's thyroiditis to predict central lymph node metastasis.,"Preoperative prediction of central lymph node (LN) metastasis in papillary thyroid carcinoma (PTC) with Hashimoto's thyroiditis (HT) provides an important basis for surgical decision-making\, especially regarding the extent of tumour resection. We aimed to develop and validate a nomogram model for the preoperative assessment of central LN metastasis.,We retrospectively collected the data of 994 PTC patients with HT who underwent surgery at the West China Hospital from January 2008 to December 2017. Among them\, 606 patients who underwent surgeries relatively earlier comprised the training cohort for nomogram development\, while the other 388 who underwent surgeries relatively later formed the validation cohort to validate the model's performance. Univariate and multivariate logistic regression analyses were conducted using the data of the two respective cohorts\, as well as the data of the combined cohort. The relevant preoperative potential risk factors include demographic characteristics\, medical history information\, thyroid function test\, ultrasound characteristics and BRAF V600E gene detection. A nomogram model was subsequently developed. The performance\, discrimination and calibration of the nomogram model were assessed in the training and validation cohorts and in the combined cohort.,The central LN metastasis rate of PTC with HT was 49.7% (301/606) and 48.7% (193/388) in the training and validation cohorts\, respectively. The univariate and multivariate logistic regression analyses indicated that younger age\, normal body mass index\, BRAF V600E mutation\, larger maximum diameter\, left lobe tumour\, aspect ratio >1\, capsular invasion and calcification were significant risk factors for central LN metastasis in PTC patients with HT. The preoperative nomogram showed good calibration and discrimination for the training and validation cohorts\, as well as for the combined data set.,The nomogram we developed and validated with a comprehensive set of preoperative factors is effective in predicting central LN metastasis in PTC patients with HT.",Clinical endocrinology,vol.94:2:310-321,2021,Journal Article,,,"https://orcid.org/0000-0001-7732-6517Department of Thyroid Surgery\, West China Hospital\, Sichuan University\, Chengdu\, China.,Department of Thyroid Surgery\, West China Hospital\, Sichuan University\, Chengdu\, China.,Department of Thyroid Surgery\, West China Hospital\, Sichuan University\, Chengdu\, China.,Department of Thyroid Surgery\, West China Hospital\, Sichuan University\, Chengdu\, China.",,"General Project pf Science and Technology Department of Sichuan Province,West China Hospital\, Sichuan University,Sichuan University,Sichuan University",",,,","2019JDKKP0071,18HXBH074,18HXBH074,2019JDKKP0071","Central lymph node metastasis,Hashimoto's thyroiditis,Nomogram,Papillary thyroid carcinoma"
33423919,"Solomon D,Leigh N,Bekhor E,Feferman Y,Dhorajiya P,Feingold D,Hofstedt M,Aycart SN,Golas BJ,Sarpel U,Labow DM,Magge DR",The role of molecular biomarkers in outcomes and patient selection for cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for peritoneal metastases of colorectal origin.,"Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS/HIPEC) is effective in select patients with peritoneal metastases of colorectal (CRC) origin. The impact of different biomarkers in predicting recurrence after CRS/HIPEC is unclear.,Retrospective review of patients who underwent CRS/HIPEC for PC of CRC origin from 03/2007-08/2017. Molecular profile of the primary tumor was obtained from pathology reports\, whenever available.,Overall\, 100 patients underwent CRS/HIPEC for peritoneal metastases of CRC origin. Most patients presented high grade tumor histology (G2/G3\, n = 97\, 97%)\, and a majority showed mucinous features (n = 61\, 61%). At a median follow-up of 18 months\, median DFS for the overall population was 13 months (95% CI 9.6\, 16.4). Data reporting at least one mutational analysis was available in 64 patients. Microsatellite stability was detected in 42/50 (84%) patients\, mKRAS in 25/51 (49%)\, and mBRAF in 5/35 (14.3%). On Kaplan-Meier analysis\, BRAF was the only mutation associated with poor DFS (16 months\, CI 95% 11.7-43.3 vs. 7 months\, CI 95% 2.1-11.9\, p = .008). On multivariate analysis\, mBRAF independently predicted earlier recurrence (p = .032).,In this analysis\, mBRAF was independently associated with earlier recurrence in patients undergoing CRS/HIPEC for CRC\, leading to dismal median DFS (7 months). Strict patient selection is advisable in these patients.",The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland,vol.::,2021,Journal Article,,,"Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Pathology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA.,Department of Surgery\, Division of Surgical Oncology\, Icahn School of Medicine at Mount Sinai\, New York\, NY\, USA. Electronic address: Deepa.magge@mountsinai.org.",,,,,"CRS/HIPEC,Colorectal cancer,Mutational status,Peritoneal carcinomatosis"
33426601,"Kunnackal John G,Das Villgran V,Caufield-Noll C,Giardiello FM",Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.,"Lynch syndrome (LS) is associated with an increased lifetime risk of several cancers including colorectal (CRC), endometrial (EC), ovarian (OC), urinary (UT) and sebaceous tumors (ST). The benefit for universal screening in CRC and EC is well known. However, this benefit in other major lynch-associated tumors is unclear. We performed a systematic review of all published articles in the MEDLINE database between 2005 to 2017 to identify studies performing universal screening for LS in unselected CRC, EC, OC, UT and ST. All cases with MSI-H (instability in two or more markers) or missing one or more proteins on IHC testing were considered screening positive. Cases with MLH1 promoter hypermethylation or BRAF mutation positive were considered to have somatic mutations. A total of 3788 articles were identified in MEDLINE yielding 129 study arms from 113 studies. The overall pooled yield of universal LS screening and germline mismatch gene mutation was significantly different across the major LS-associated tumors (Mann Whitney test, p < 0.001). The pooled screening yield was highest in ST [52.5% (355/676), 95% CI 48.74-56.26%] followed by EC [22.65% (1142/5041), 95% CI 21.54-23.86%], CRC [11.9% (5649/47,545), 95% CI 11.61-12.19%], OC [11.29% (320/2833), 95% CI 10.13-12.47%] and UT [11.2% (31/276), 95% CI 7.48-14.92%]. ST also had the highest pooled germline positivity for mismatch repair gene mutation [18.8%, 33/176, 95%CI 13.03-24.57], followed by EC [2.6% (97/3765), 95% CI 2.09-3.11], CRC [1.8% (682/37,220), 95% CI 1.66-1.94%], UT [1.8%(3/164), 95% CI - 0.24-3.83%] and OC [0.83%(25/2983), 95% CI 0.48-1.12%]. LS screening in EC yielded significantly higher somatic mutations compared to CRC [pooled percentage 16.94% [(538/3176), 95%CI 15.60-18.20%] vs. 5.23% [(1639/26,152), 95% CI 4.93-5.47%], Mann Whitney test, p < 0.0001. Universal LS testing should be routinely performed in OC, UT and STs in addition to CRC and EC. Our findings also support consideration for IHC and somatic mutation testing before germline testing in EC due to higher prevalence of somatic mutations as well as germline testing in all patients with ST. Our results have implications for future design of LS screening programs and further studies are needed to assess the cost effectiveness and burden on genetic counselling services with expanded universal testing for LS.",Familial cancer,vol.::,2021,Journal Article,,,"http://orcid.org/0000-0002-0595-5434Clinical Assistant Professor\, Division of Gastroenterology and Hepatology\, University of Maryland School of Medicine\, 511 Idlewild Ave\, Easton\, MD\, 21601\, USA. george.john@umm.edu.,Pulmonary and Critical Care Fellow\, Allegheny Health Network\, Pittsburgh\, PA\, 15212\, USA.,Medical Librarian\, Johns Hopkins Bayview Medical Center\, Baltimore\, MD\, 21224\, USA.,Division of Gastroenterology and Hepatology\, Johns Hopkins University School of Medicine\, Baltimore\, MD\, 21205\, USA.",,NIH HHS,United States,P50CA062924,"Lynch syndrome,Universal screening"
33428122,"Shi X,Qu M,Jin X,Liu L,Meng F,Shen H","Relationship between TSHR, BRAF and PIK3CA gene copy number variations and thyroid nodules.","This study aims to investigate the relationship between the TSHR\, BRAF\, and PIK3CA gene copy number variations (CNVs) and thyroid nodules by analyzing gene CNVs\, and to explore the interaction between iodine status and the above genes CNVs in the occurrence of thyroid nodules.,Three hundred and ninety-five subjects were selected from 3 regions with different iodine status in Shanxi Province of China\, including 192 patients with thyroid nodules and 203 healthy controls. The basic information about subjects had been obtained through a questionnaire. B ultrasound was utilized to check thyroid nodules. Blood and urine samples were harvested to detect the thyroid function and urinary iodine concentration. Real-time quantitative polymerase chains reaction (RT-PCR) served to detect CNVs in DNA from human blood.,There was an association between TSHR gene CNV and thyroid nodules (χ2 = 8.403\, P = 0.004). The prevalence of BRAF and PIK3CA gene CNVs was not statistically significant between the case group and the control group. Differences in the TSHR gene CNV rates for cases of the 3 areas were statistically significant (χ2 = 10.072\, P = 0.007). No statistical difference in the prevalence rates of the 3 genes CNVs between diverse characteristics of thyroid nodules was observed. UIC > 300 μg/L (OR = 1.74\, 95% CI: 1.02-2.96\, P = 0.041) and TSHR gene CNV (OR = 3.53\, 95% CI: 1.40-8.92\, P = 0.008) were risk factors for thyroid nodules. There was no significant interaction between the UIC and the examined genes CNVs.,TSHR gene CNV and high urinary iodine levels can increase the risk of thyroid nodules. But the interactions between the 3 above genes CNVs and iodine nutrition were not found in the occurrence of thyroid nodules.",Endocrine,vol.::,2021,Journal Article,,,"Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China.,Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China.,Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China.,Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China.,Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China.,http://orcid.org/0000-0002-8807-9897Centre for Endemic Disease Control\, Chinese Centre for Disease Control and Prevention\, Harbin Medical University\, Harbin\, Heilongjiang\, China. shenhm119@hrbmu.edu.cn.",,National Natural Science Foundation of China,,81573098,"BRAF,Copy number variation,PIK3CA,TSHR,Thyroid nodules,Urinary iodine"