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

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 suscepti...

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Main Authors: Udari Apsara Liyanage, Nirmala Dushyanthi Sirisena, Pushpika Chathuranga Deshapriya, Vajira Harshadeva Weerabaddana Dissanayake
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Women's Health
Subjects:
Online Access:https://doi.org/10.1186/s12905-023-02797-z
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author Udari Apsara Liyanage
Nirmala Dushyanthi Sirisena
Pushpika Chathuranga Deshapriya
Vajira Harshadeva Weerabaddana Dissanayake
author_facet Udari Apsara Liyanage
Nirmala Dushyanthi Sirisena
Pushpika Chathuranga Deshapriya
Vajira Harshadeva Weerabaddana Dissanayake
author_sort Udari Apsara Liyanage
collection DOAJ
description 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.
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spelling doaj.art-50d2f08741804a70879c962ccbf19c532023-12-03T12:34:43ZengBMCBMC Women's Health1472-68742023-11-012311910.1186/s12905-023-02797-zBreast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource settingUdari Apsara Liyanage0Nirmala Dushyanthi Sirisena1Pushpika Chathuranga Deshapriya2Vajira Harshadeva Weerabaddana Dissanayake3Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of ColomboDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of ColomboDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of ColomboDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of ColomboAbstract 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.https://doi.org/10.1186/s12905-023-02797-zCancer genetic screeningHereditary breast cancerBreast cancer riskScreening mammographySouth Asia
spellingShingle Udari Apsara Liyanage
Nirmala Dushyanthi Sirisena
Pushpika Chathuranga Deshapriya
Vajira Harshadeva Weerabaddana Dissanayake
Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
BMC Women's Health
Cancer genetic screening
Hereditary breast cancer
Breast cancer risk
Screening mammography
South Asia
title Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
title_full Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
title_fullStr Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
title_full_unstemmed Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
title_short Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
title_sort breast cancer surveillance in brca positive sri lankan women health equity for a high risk group at a limited resource setting
topic Cancer genetic screening
Hereditary breast cancer
Breast cancer risk
Screening mammography
South Asia
url https://doi.org/10.1186/s12905-023-02797-z
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