Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.

Background: The objective of this study is to search for mutations in the BRCA1 (c.5177_5180delGAAA and c.4986+6T>C) and BRCA2 genes (c.6445_6446delAT) in a population of women diagnosed with breast cancer. Methods: This is a case-control study that involved 140 participants, including 70 patients with histologically diagnosed breast cancer and 70 healthy women without breast cancer. Mutations in the BRCA1 (rs80357867, rs80358086) and BRCA2 (rs80359592) genes were tested by real-time PCR. The 95% confidence interval Odds Ratio (OR) was used to estimate the associations between specific genotypes and breast cancer. Results: The study revealed that no mutations were detected for rs80359592. Similarly, no reference allele (TTTC/TTTC) of rs80357867 was found in this study. However, the homozygous double mutant (-/) genotype of this rs80357867 was observed in 11.43% and 1.43% of patients and controls respectively, while 88.57% of patients and 98.57% of controls had a heterozygous deletion (TTTC/-). Concerning rs80358086, 8.57% of the patients had a heterozygous mutation (A/G) with no significantly risk association with occurrence of breast cancer (OR = 6.46; 95% CI: 0.75-55.21; p = 0.11). In addition, this heterozygous mutation was significantly associated with a family history of breast cancer (OR=128; 95% CI: 9.46-1730.93) and breast cancer risk in nonmultiparous women (OR=6; 95% CI: 1-35.90; p= 0.05) but no association with overweight/obesity (OR=1.66; 95% CI: 0.18-15.35; p=1). Conclusion: This study shows high frequencies of heterozygous mutation of rs80357867 and rs80358086 from patients. In Burkina Faso, these results could help with early diagnosis of breast cancer in patients.

Mutations in exon 11 (11.1 and 11.2) of the BRCA1 gene and risk factors for breast cancer in Burkina Faso.

Breast cancer is the leading cause of death among women in both developed and developing countries. It is multifactorial, including genetic predispositions such as oncogenic mutations on BRCA1 and 2 genes. The objectives of the present study were to identify oncogenic mutations in exon 11 of the BRCA1 gene and to determine the risk factors for breast cancer among women population in Burkina Faso. This study involved 100 women, including 50 cases of breast cancer and 50 controls (no clinical signs and no family history of breast cancer or other cancers). Mutations in the BRCA1 gene were detected by PCR using sequence primers specific for exon 11 fragments (11.1 and 11.2). In our study population, age (OR=22.40; CI: 4.33-115.82; p<0.001) and obesity (OR=4.23; CI: 1.64-10.92; p=0.003) were risk factors while multiparity was a protective factor for breast cancer (OR=0.35; CI: 0.15-0.81; p=0.02). A mutation was found on both fragments 11.1 and 11.2 of the BRCA1 gene exon 11 in 04/50 (8.0 %) of patients. No mutations were observed in controls. The present study revealed high frequency of oncogenic mutations in exon 11 fragments (11.1 and 11.2) of the BRCA1 gene. These mutations on exon 11 are and involved in the occurrence of breast cancer in our population. Age and obesity were also risk factors for breast cancer among women population in Burkina Faso.

Carriage of HLA-DRB1*11 and 1*12 alleles and risk factors in patients with breast cancer in Burkina Faso.

Several factors contribute to the development of breast cancer, including the immune system. This study is aimed to characterize the carriage of human leukocyte antigen (HLA)-DRB1*11 and 1*12 alleles in patients with breast cancer. This case-control study consisted of 96 histologically diagnosed breast cancer cases and 102 controls (cases without breast abnormalities). A multiplex polymerase chain reaction (PCR) was used to characterize the carriage of HLA-DRB1*11 and 1*12 alleles. The HLA-DRB1*11 allele was present in 26.59% of cases and 22.55% of controls. The HLA-DRB1*12 allele was present in 56.63% of cases and 55.88% of controls. This study found no direct association between the carriage of the HLA-DRB1*11 and HLA-DRB1*12 alleles and the occurrence of breast cancer. In addition, the deletion of the HLA-DRB1*11 allele is associated (beneficial effect) with obesity/overweight (OR = 0.13; 95% CI [0.01-1.14]; and p = 0.03) which is a risk for breast cancer. No direct association was found between the carriage of HLA-DRB1*11 and 1*12 alleles and breast cancer risk. However, further investigation of other HLA alleles involved in the occurrence of breast cancer may provide more information.

Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

Breast cancer is the top cause of cancer mortality among women in the world and the second in Africa. The aims of this study were to: i) identify women with breast nodules suspected of having breast cancer ii) sequence the BRCA1 and BRCA2 genes and iii) screen mutations. From 2015 to 2016, 112 women aged from 35 to 44 years, who had come for consultation in the gynecology/obstetrics and the oncology department of the University Hospital Yalgado Ouedraogo, voluntarily agreed to participate to this study. Whole blood was collected from those with mammary nodules. The genomic DNA was extracted using Qiagen kit. FAST KAPA was used for genomic DNA amplification and the purified PCR products were analyzed by direct sequencing using Big Dye v1.1 and ABI 3730 automated sequencer. Nucleotides substitutions were determined. We identified BRCA1 SNPs rs1799966, rs799917, rs16942, rs16941, rs2227945, and BRCA2 SNPs rs169547, rs4986860. These identified variants are found mostly in cases of benign tumors of breast or ovarian cancer with familial history of breast cancer. This study in Burkina-Faso, is the basis for improved and more specific genetic testing, and suggests that additional genes contributing to an increased risk of breast cancer should be analyzed.

Ectopic pheochromocytoma or paraganglioma of the ZUCKERKANDL organ: A case report and review of the literature.

INTRODUCTION: Paraganglioma of the ZUCKERKANDL organ are rare. Diagnosis is based on clinical, radiological and biological arguments. We report a case to describe our surgical procedure and insist on the necessity of preoperative diagnosis. PRESENTATION OF CASE: BA, 52-years-old male patient was seen in consultation for left hypochondrium pains. The clinical examination had revealed a painful tumefaction in the left flank and the left hypochondrium. A deep mass was observed, but was difficult to be assessed, due to pain. Abdominal-pelvic CT scan with contrast injection had revealed a tissue mass, suggesting a tumor of the tail of the pancreas. Laparotomy showed this mass was not attached to the tail of the pancreas, and was along the abdominal aorta up to the aortic bifurcation. Upon touching the mass, blood pressure raised up to 240 mmHg. A least mobilization of the mass and the use of nicardipine helped maintain blood pressure below 180mmhg. Dissection was carried out from the aortic bifurcation to the TREITZ's angle and the mass was removed. The follow-ups were characterized by low blood pressure a few minutes following the resection of the mass. DISCUSSION: Pheochromocytoma is rare. The Clinical signs, Abdominal-pelvic CT scan and biology are the steps of the preoperative diagnosis. The surgery consists a lumpectomy. The resuscitation determines the patient's prognosis. CONCLUSION: Pheochromocytoma is an unusual mass. Preoperative diagnosis can be difficult in pauci-symptomatic cases. One should consider this in the face of any abdominal mass, so as to improve planning of resuscitation which determines the patient's prognosis.

Oncogenic human papillomavirus infection and genotypes characterization among sexually active women in Tenkodogo at Burkina Faso, West Africa.

OBJECTIVE: This study was conducted to determine the prevalence and distribution of high-risk human papillomavirus (HR-HPV) genotypes among sexually active women in Tenkodogo, Burkina Faso. METHODS: Among 131 sexually active women attending the Tenkodogo Urban Medical Center, endocervical samples were collected prior to screening for precancerous lesions. After viral DNA extraction, fourteen HR-HPV genotypes were characterized by real-time multiplex PCR in these cervical samples. RESULTS: The mean age was 35.5 ±â€¯9.5 years. Of the 131 women, 45 were infected with at least one HR-HPV genotype. The prevalence of HR-HPV infection among these women was 34.4%. Among the 45 oncogenic HPV-infected women, single HR-HPV genotype was found in 55.6% while 44.4% were infected with more than one HR-HPV genotype. The most frequent genotypes were HPV56 (36.5%), HPV66 (36.5%). CONCLUSION: Tenkodogo women included in this study had a higher prevalence of HPV 56, HPV 66. A larger study with a more representative sample would therefore be needed to determine predominant oncogenic genotypes in the subregion and especially in cancer cases.

Multiparity and Breast Cancer Risk Factor among Women in Burkina Faso

The relative lack of information on breast cancer etiology in Burkina Faso led us to undertake the present work to highlight risk factors. This prospective study was conducted using a questionnaire between January 2015 and February 2016 on women admitted to Yalgado OUEDRAOGO hospital, for consultation or supervision. The characteristics of multiparous breast cancer patients (n = 44) were compared with their non-multiparous counterparts (n = 36). The study found that increased risk of breast cancer among non-multiparous cases was related to body mass index (BMI) (p <0.001), age at menopause (p <0.004) and use of oral contraception (p <0.021) while abortion (p <0.002) was a risk factor among multiparous cases. These results suggest that even if multiparity is associated with a decreased risk in some women, avoidance of abortion during reproductive life should be recommended. The results provide preliminary information, which now need to be supplemented by survey of a larger sample in the national territory.