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BRCA 阳性斯里兰卡女性的乳腺癌监测:资源有限环境下高危人群的健康公平性

Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting.

机构信息

Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

出版信息

BMC Womens Health. 2023 Nov 28;23(1):636. doi: 10.1186/s12905-023-02797-z.

Abstract

BACKGROUND

BRCA1 and BRCA2 pathogenic variants account for 90% of hereditary breast malignancies, incurring a lifetime breast cancer risk of 85% and 40-45% respectively, in affected individuals. Well-resourced health care settings offer genetic counselling and genetic screening for susceptible individuals, followed by intense breast cancer surveillance programmes for those identified at high risk of breast cancer. Such high standards of care are not available in countries with limited resources. This study assessed breast cancer surveillance behaviors among a cohort of BRCA positive Sri Lankan women.

METHODS

A retrospective case review of all patients diagnosed with pathogenic variants in BRCA1 and BRCA2 genes from 2015 to 2022 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was carried out followed by telephone interviews of the respondents. Patients who were not contactable, deceased, undergone bilateral mastectomy and males were excluded from the interview component of the study. Standard descriptive statistics were used to analyze the data using SPSS statistics version 25.

RESULTS

Only 25 patients were diagnosed during the study period:14/25 women responded (6/25 deceased, 3/25 non-contactable; 2/25 excluded). 71.4% (10/14) had performed breast self-examination during the preceding month; 35.7% (5/14) had a clinical breast examination (CBE), and 50% (7/14) had undergone a screening/diagnostic mammogram during the last one year. 28.5% (4/14) had undergone both mammography and CBE; 21.45% (3/14) mammogram only, 7.1% (1/14) had CBE only. 42.8%(6/14) had not undergone any surveillance(mammography, CBE or MRI). None had dual screening with mammogram and MRI. 85.71% (12/14) women expressed willingness to participate in a regular screening programme if made available.

CONCLUSION

Fifty percent of BRCA1/2 positive women in our study had not undergone annual imaging-based surveillance by mammography or MRI, and none had undergone annual dual screening with mammography and MRI, indicating inadequate breast cancer surveillance in this high-risk group.

摘要

背景

BRCA1 和 BRCA2 致病性变异体占遗传性乳腺癌的 90%,分别使受影响个体的终生乳腺癌风险增加到 85%和 40-45%。资源丰富的医疗保健机构为易感个体提供遗传咨询和基因筛查,然后为那些被确定为乳腺癌高风险的个体提供强化乳腺癌监测计划。在资源有限的国家,无法提供如此高标准的护理。本研究评估了 BRCA 阳性斯里兰卡女性队列的乳腺癌监测行为。

方法

对 2015 年至 2022 年在科伦坡大学医学院人类遗传学系诊断出 BRCA1 和 BRCA2 基因致病性变异体的所有患者进行回顾性病例审查,随后对受访者进行电话访谈。无法联系、已故、已行双侧乳房切除术和男性的患者被排除在研究的访谈部分之外。使用 SPSS 统计版本 25 对数据进行标准描述性统计分析。

结果

研究期间仅诊断出 25 例患者:14/25 名女性(6/25 例已故、3/25 例无法联系、2/25 例排除)做出回应。71.4%(10/14)在过去一个月内进行了乳房自我检查;35.7%(5/14)进行了临床乳房检查(CBE),50%(7/14)在过去一年中进行了筛查/诊断性乳房 X 光检查。28.5%(4/14)同时进行了乳房 X 光检查和 CBE;21.45%(3/14)仅进行了乳房 X 光检查,7.1%(1/14)仅进行了 CBE。42.8%(6/14)未进行任何监测(乳房 X 光检查、CBE 或 MRI)。没有人同时进行乳房 X 光检查和 MRI 双重筛查。85.71%(12/14)的女性表示如果有定期筛查计划,愿意参加。

结论

在我们的研究中,50%的 BRCA1/2 阳性女性没有进行年度基于成像的乳房 X 光检查或 MRI 监测,没有人进行年度乳房 X 光检查和 MRI 双重筛查,这表明该高危人群的乳腺癌监测不足。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b44/10685476/ea27121d1c91/12905_2023_2797_Fig1_HTML.jpg

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