Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.

We performed genome-wide association studies of breast cancer including 18,034 cases and 22,104 controls of African ancestry. Genetic variants at 12 loci were associated with breast cancer risk (P < 5 × 10-8), including associations of a low-frequency missense variant rs61751053 in ARHGEF38 with overall breast cancer (odds ratio (OR) = 1.48) and a common variant rs76664032 at chromosome 2q14.2 with triple-negative breast cancer (TNBC) (OR = 1.30). Approximately 15.4% of cases with TNBC carried six risk alleles in three genome-wide association study-identified TNBC risk variants, with an OR of 4.21 (95% confidence interval = 2.66-7.03) compared with those carrying fewer than two risk alleles. A polygenic risk score (PRS) showed an area under the receiver operating characteristic curve of 0.60 for the prediction of breast cancer risk, which outperformed PRS derived using data from females of European ancestry. Our study markedly increases the population diversity in genetic studies for breast cancer and demonstrates the utility of PRS for risk prediction in females of African ancestry.

Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes.

African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3' UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls. At Bonferroni-corrected P < 0.05, we identified six genes associated with breast cancer risk, including four genes not previously reported (CTD-3080P12.3, EN1, LINC01956 and NUP210L). Most of these genes showed a stronger association with risk of estrogen-receptor (ER) negative or triple-negative than ER-positive breast cancer. We also replicated the associations with 29 genes reported in previous TWAS at P < 0.05 (one-sided), providing further support for an association of these genes with breast cancer risk. Our study sheds new light on the genetic basis of breast cancer and highlights the value of conducting research in AA populations.

Commonly used diagnostic label, classes, domain, and formulation among nursing students in Ibadan, Oyo State Nigeria.

BACKGROUND: In order to select nursing actions that will produce the desired results, a nursing diagnosis is crucial. Despite this, it can be challenging for nursing students to recognize and create precise nursing diagnostic labels that are particular to a patient's situation. The study's objectives are to identify the diagnostic labels, classes, and domains that are frequently formulated by nursing students. MATERIALS AND METHODS: A descriptive cross-sectional methodology and a self-developed questionnaire were utilized to gather information from 120 nursing students who were chosen using a simple random sampling technique. Descriptive and inferential (Chi-square) statistics were used to analyze the data. The 0.05 P- value was chosen. RESULTS: The respondent's average age is 23 ± 21.4 years. The majority of respondents (94.2%) concurred that greater exposure to clinical settings, case discussion methods (92.5%), as well as group case studies (90.8%) strategy, can all improve the creation of precise diagnostic labels. Additionally, the deficient fluid volume diagnostic label is the one that is most usually utilized (78.3%). Overall results show that the diagnostic labels that are used the most frequently are those for domains 4 (Activity/Rest) and 11 (Safety/Protection). There was no relationship (P = 0.061) between the commonly used diagnostic label and the chosen schools. CONCLUSION: The study offered empirical data on the most used diagnostic labels and domains. Therefore, it will be important that nursing students involve critical reasoning skills as well as familiarize themselves with other significant domains and classes that are useful in the patient's care.

Benign breast disease and breast cancer risk in African women: a case-control study.

PURPOSE: To examine the association between benign breast disease (BBD) and breast cancer (BC) in a heterogeneous population of African women. METHODS: BC cases and controls were enrolled in three sub-Saharan African countries, Nigeria, Cameroon, and Uganda, between 1998 and 2018. Multivariable logistic regression was used to test the association between BBD and BC. Risk factors dually associated with BBD and BC were selected. Using a parametric mediation analysis model, we assessed if selected BC risk factors were mediated by BBD. RESULTS: Of 6,274 participants, 55.6% (3,478) were breast cancer cases. 360 (5.7%) self-reported BBD. Fibroadenoma (46.8%) was the most commonly reported BBD. Women with a self-reported history of BBD had greater odds of developing BC than those without (adjusted odds ratio [aOR] 1.47, 95% CI 1.13-1.91). Biopsy-confirmed BBD was associated with BC (aOR 2.25, 95% CI 1.26-4.02). BBD did not significantly mediate the effects of any of the selected BC risk factors. CONCLUSIONS: In this study, BBD was associated with BC and did not significantly mediate the effects of selected BC risk factors.

Benign breast disease and breast cancer risk in African women: A case-control study.

Purpose: To examine the association between benign breast disease (BBD) and breast cancer (BC) in a heterogeneous population of African women. Methods: BC cases and matched controls were enrolled in three sub-Saharan African countries, Nigeria Cameroon, and Uganda, between 1998-2018. Multivariable logistic regression was used to test the association between BBD and BC. Risk factors dually associated with BBD and BC were selected. Using a parametric mediation analysis model, we assessed if selected BC risk factors were mediated by BBD. Results: Of 6418 participants, 55.7% (3572) were breast cancer cases. 360 (5.7%) self-reported BBD. Fibroadenoma (46.8%) was the most reported BBD. Women with a self-reported history of BBD had greater odds of developing BC than those without (adjusted odds ratio [aOR] = 1.47, 95% CI: 1.13-1.91). Biopsy-confirmed BBD was associated with BC (aOR = 3.11, 95% CI: 1.78-5.44). BBD did not significantly mediate the effects of any of the selected BC risk factors. Conclusions: In this study, BBD was associated with BC and did not significantly mediate the effects of selected BC risk factors.

Cancer Genetic Services in a Low- to Middle-Income Country: Cross-Sectional Survey Assessing Willingness to Undergo and Pay for Germline Genetic Testing.

PURPOSE: Cancer genetic testing (CGT), a pathway to personalized medicine, is also being embraced in Nigeria. However, little is known about the influence of demographics and perceptions on individuals' willingness to access and pay for CGT. This study assessed patients' willingness to undergo CGT in southwest Nigeria as a catalyst for sustainable Cancer Risk Management Program. METHODS: This was a cross-sectional study using semistructured questionnaire to interview 362 patients with cancer and 10 referred first-degree relatives between July 2018 and February 2020. Participants from three Nigerian teaching hospitals-University College Hospital, Ibadan, Lagos State University Teaching Hospital, Lagos, and Lagos University Teaching Hospital, Lagos, received genetic counseling and had subsequent CGT. Primary outcomes were willingness to undergo CGT in determining cancer risk and the willingness to pay for it. Ethical approval was from appropriate ethics committees of participating hospitals. Data were analyzed with SPSS version 22. Univariate comparison of categorical variables was performed by χ2 test, multivariate analysis by logistic regression. RESULTS: The participants from University College Hospital (56.2%), Lagos State University Teaching Hospital (26.3%), and Lagos University Teaching Hospital (17.5%) were mostly female (98.4%). Mean age was 48.8 years ± 11.79. Three hundred twenty-two (86.6%) patients and first-degree relatives were willing to take the test, of whom 231 (71.1%) were willing to pay for it. more than half (53.6%) of the participants were willing to pay between N10,000 and N30,000, which is less than $100 US dollars. Sociodemographic variables and willingness to test showed no association (P > .05). Education and ethnicity were found to be associated with their willingness to pay for CGT (P ≤ .05). CONCLUSION: Learning clinically relevant details toward cancer prevention informs health-related decisions in patients and relatives, a motivator for willingness to pay for genetic testing in low- and middle-income countries. Increased awareness may influence outcomes of cancer risk management.

Feasibility of genetic testing for cancer risk assessment programme in Nigeria.

BACKGROUND: A high frequency of BRCA mutations has been established in Nigerian breast cancer (BC) patients. Recently, patients' and first-degree relatives' interest have been raised on cancer genetic risk assessment through our awareness activities in Nigeria. This led to the emergence of nurse-led cancer genetic counselling (CGC) and testing aimed at providing standard-of-care for individuals at increased risk of hereditary breast and ovarian cancers. METHODS: In June 2018, CGC and testing of patients with BC and ovarian cancer (OC) commenced in collaboration with Color Genomics Inc. for a 30-panel gene testing. Previously trained nurses in CGC at the University College Hospital, Ibadan offered genetic counselling (GC) to willing patients with BC and gynaecological cancer in four out-patient oncology clinics and departments for the pilot study. Consultation consisted of CGC, patient's history, pedigree and sample collection for genetic testing (GT). RESULTS: Forty-seven patients - 40 with BC, five with OC and two with endometrial cancer received GC, and all chose to undergo GT. The average age at testing was 48.2 ± 12.1 years. Eight women reported a known family cancer history and there were more perceived benefits than barriers to GT with the patients experiencing the desire for none of their relative to have cancer. Results revealed no mutations in 27 (57.4%), 16 (4.0%) variants of unknown significance and 4 (8.5%) pathogenic mutations. CONCLUSION: Personalised cancer care utilises GC and testing for cancer risk assessment towards prevention and early detection in high risk women. The study indicates the necessity of expanded cancer genetic services for integration into patient care and cancer prevention.

Effect of standardized nursing language continuing education programme on nurses' documentation of care at University College Hospital, Ibadan.

Aim: The study assessed the documentation of nursing care before, during and after the Standardized Nursing Language Continuing Education Programme (SNLCEP). It evaluates the differences in documentation of nursing care in different nursing specialty areas and assessed the influence of work experience on the quality of documentation of nursing care with a view to provide information on documentation of nursing care. The instrument used was an adapted scoring guide for nursing diagnosis, nursing intervention and nursing outcome (Q-DIO). Design: Retrospective record reviews design was used. Methods: A total of 270 nursing process booklets formed the sample size. From each ward, 90 booklets were selected in this order: 30 booklets before the SNLCEP, 30 booklets during SNLCEP and 30 booklets after SNLCEP. Results: Overall, the study concluded that the SNLCEP had a significant effect on the quality of documentation of nursing care using Standardized Nursing Languages.

Assessment of patients' wound-related pain experiences in University College Hospital, Ibadan, Nigeria.

This study was necessitated by the international recognition of wound-related pain (WRP) as a must-address issue and patient-centred concerns. The aim of this study was to assess patients' WRP experiences at rest and in relation to dressing change. This descriptive study utilised a WRP questionnaire which incorporated a visual analogue scale of 0-10 for data collection. A total of 109 patients participated in this study; 95·4% of the participants experienced wound pain at rest and during performance of activities of daily living, which were moderate (47·1%) and severe (30·8%) in intensity. Also, 91·7% of the participants experienced wound dressing change-related pain, mostly as moderate (47·0%) and severe (28·0%) pain. The major factors that worsened WRP experiences were touch/handling, change in position/movement, wound cleansing, removal of dressings and usage of honey as a dressing agent, while the use of analgesic and brief rest between dressing change were considered the major strategies that can relieve WRP. WRP experiences have been reported by patients at rest, during performance of activities of daily living and at wound dressing change. A need to incorporate WRP assessment has been observed, which is vital in improving wound care outcome.