Assessment of Knowledge and Attitude of Breast and Ovarian Cancer Patients Regarding Hereditary Breast-Ovarian Cancer Syndrome at a Tertiary Cancer Institute: A Cross-Sectional Observational Study
CC BY 4.0 · Indian J Med Paediatr Oncol 2024; 45(01): 028-034
DOI: DOI: 10.1055/s-0043-1768178
Abstract
Introduction Hereditary breast and ovarian cancer (HBOC) syndrome affects a significant proportion of our breast and ovarian cancer patients. Mutations in genes, for example, BRCA1 and 2, confer a high risk of acquiring certain malignancies, including breast cancer in both men and women, and ovarian cancer in women. Mutation carriers provide a unique opportunity for healthcare professionals to intensively screen and detect malignancy at an early and curable stage. But, patient awareness and acceptance are the keys to the success of these strategies.
Objective There is a need to assess the awareness of the patients in this field as the patients come from varied backgrounds, and differ in their socioeconomic profiles, educational backdrop, and cultures. In this study, done prior to establishing our cancer genetics clinic, we evaluated the knowledge and attitude toward HBOC in patients with breast cancer and ovarian cancer.
Materials and Methods This cross-sectional observational study was conducted on patients registered in IRCH-AIIMS, who has a diagnosis of breast cancer or ovarian cancer using a self-administered questionnaire based on knowledge and attitude. The sample population included 84 women aged between 25 and 80 years. A binary response was given to knowledge questions, whereas a categorical response was given to attitude questions. The overall data was computed using STATA v13 software.
Results According to the findings of the study, 39.3% (5.11/13) of the patients were aware of hereditary cancer. Knowledge among the targeted population was poor, but 72.1% (37.5/52) of the population had a neutral attitude toward learning more about hereditary cancer tests. Only 23/84 (27%) people had heard of genetic counseling. Seventy of eighty-four (83%) patients agreed that they would opt for a genetic test if indicated. While 60/84 (72%) of the population wanted to interact with a counselor over a telephonic call, only 41/84 (49%) wanted to interact in person.
Conclusion We concluded from the study that breast and ovarian cancer patients in our clinic have little understanding of HBOC syndrome but have a neutral attitude toward learning more about it.
Keywords
hereditary breast and ovarian cancer - mutation - genetic counselingEthical Approval
The study was approved by the Institute Ethical Committee vide Letter No. IEC-186/06.04.2018, RP-47/2018.
Availability of Data and Material
Data regarding this study will be available from the corresponding author (R.P.) at reasonable request.
Authors' Contributions
R.P., S.D., L.K. conceptualized the study, S.V. collected data, S.M., R.P., S.K., A.G., and A.B. analyzed data, and R.P. and S.M. drafted the manuscript. The final manuscript was reviewed and edited by all authors.
Supplementary MaterialPublication History
Article published online:
12 May 2023
© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
Abstract
Introduction Hereditary breast and ovarian cancer (HBOC) syndrome affects a significant proportion of our breast and ovarian cancer patients. Mutations in genes, for example, BRCA1 and 2, confer a high risk of acquiring certain malignancies, including breast cancer in both men and women, and ovarian cancer in women. Mutation carriers provide a unique opportunity for healthcare professionals to intensively screen and detect malignancy at an early and curable stage. But, patient awareness and acceptance are the keys to the success of these strategies.
Objective There is a need to assess the awareness of the patients in this field as the patients come from varied backgrounds, and differ in their socioeconomic profiles, educational backdrop, and cultures. In this study, done prior to establishing our cancer genetics clinic, we evaluated the knowledge and attitude toward HBOC in patients with breast cancer and ovarian cancer.
Materials and Methods This cross-sectional observational study was conducted on patients registered in IRCH-AIIMS, who has a diagnosis of breast cancer or ovarian cancer using a self-administered questionnaire based on knowledge and attitude. The sample population included 84 women aged between 25 and 80 years. A binary response was given to knowledge questions, whereas a categorical response was given to attitude questions. The overall data was computed using STATA v13 software.
Results According to the findings of the study, 39.3% (5.11/13) of the patients were aware of hereditary cancer. Knowledge among the targeted population was poor, but 72.1% (37.5/52) of the population had a neutral attitude toward learning more about hereditary cancer tests. Only 23/84 (27%) people had heard of genetic counseling. Seventy of eighty-four (83%) patients agreed that they would opt for a genetic test if indicated. While 60/84 (72%) of the population wanted to interact with a counselor over a telephonic call, only 41/84 (49%) wanted to interact in person.
Conclusion We concluded from the study that breast and ovarian cancer patients in our clinic have little understanding of HBOC syndrome but have a neutral attitude toward learning more about it.
Keywords
hereditary breast and ovarian cancer - mutation - genetic counselingIntroduction
Breast and ovarian cancers are among the most common cancers in women across the world.[1] In the Indian population, the healthcare burden of breast and ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. In Delhi, breast and ovarian cancers rank first and fourth among the most common malignancies in females with an age-standardized incidence rate of 32.25 and 8.8 per 100,000 population.[2] A family history of cancer is one of the most important risk factors for developing breast cancer and ovarian cancer. Hereditary breast and ovarian cancer (HBOC) syndrome is characterized by an early age of onset, overrepresentation of bilateral breast cancers, and familial congregation of ovarian and breast cancers. HBOC constitutes 21 to 30.5%-of ovarian cancers[3] [4] and 8 to 18%-of breast cancers in India.[2] [5] Mittal et al's, in contrast, studies from the Western population have shown a prevalence of 5 to 9%-of germline BRCA1 and 2 mutations among patients with breast and ovarian cancers.[6] [7] [8] Pathogenic mutations in the BRCA1 and BRCA2 genes, which operate as tumor suppressors, appear to account for the majority of these cases. Carriers of germline mutations in BRCA1 are believed to have a 57 to 85%-lifetime risk of developing breast cancer, while those with the BRCA2 mutation have 49 to 85%-by the age of 70 years.[2] The average risk of ovarian cancer in women with a BRCA1 and 2 mutation is 40 and 18%, respectively.[2] [5] [9] [10] Identification of these germline mutations has profound implications in the management of these patients as well as their first-degree relatives who then qualify for single site-specific mutation testing. For the patient, it opens a cafeteria choice for prophylactic risk-reducing surgeries like RRSO (risk-reducing salpingo-oophorectomy), RRM (risk-reducing mastectomies) as well as newer therapeutic agents like PARP inhibitors like olaparib, niraparib. Prophylactic surgeries (like oophorectomy and mastectomy) substantially reduce the risk of otherwise inevitable cancer and mortality.[11] The previvors with these mutations are yet another cohort who will benefit from prophylactic surgeries like RRM and RRSO.[12] [13] The National Comprehensive Cancer Network guidelines have elaborately given recommendations for managing these patients according to the specific mutation detected.
But the core of success for all these interventions lies in the awareness of the patients and their acceptance of these interventions. This highlights the importance of the availability of cancer genetic counseling services in the different oncology centers in the country. Cancer genetic counseling should be incorporated in all the centers providing breast oncology and gynecology oncology services. In order to successfully start any “High risk familial /cancer genetic clinic,” it is essential to understand the ground realities of the targeted population, their understanding of the subject, what it means to them, and the attitude they have in their minds toward these tests. The Indian population is diverse with multiple levels of ethnic, cultural, linguistic, and religious groups that contribute to this diversity. These factors along with the level of education make the Indian population very heterogeneous. Patients visiting the breast cancer clinic and gynecology oncology clinic comes from diverse backgrounds, rural and urban, with varying levels of education and a variety of religious and cultural backgrounds from different parts of northern India.[14]
This study was planned as a survey to assess the knowledge of our patients with breast and ovarian cancers about HBOC, and their attitude and acceptance of genetic tests and possible interventions.
Objectives
The main aim of this study was to assess the knowledge and attitude of breast and ovarian cancer patients about HBOC.
Materials and Methods
In this cross-sectional observational study conducted in our breast cancer and gynecological cancer clinics of Dr. BRA-IRCH, All India Institute of Medical Sciences (AIIMS), New Delhi, from January 2018 to December 2018, patients with a diagnosis of breast or ovarian cancer attending clinics for treatment or follow-up were invited to participate with a patient information sheet and informed consent form. This was done during a personal meeting in the outpatient department (OPD). We included patients aged 18 years and above with an Eastern Cooperative Oncology Group Performance Status (ECOG PS) of 0 to 3 and who gave informed consent. Acutely sick patients and ECOG PS4 were excluded. Those consenting were asked to fill up the questionnaire using tick marks that took 5 to 7 minutes. Data collection variables included demographic details, diagnosis, family history of cancer, and responses to short questions assessing the knowledge about hereditary cancers and attitudes toward genetic counseling and testing. Illiterate patients were interviewed by translating and reading out each question and their response was recorded in the proforma (see supplementary file). The primary outcome of the study was to determine the average knowledge score and average attitude score of these patients using an in-house validated questionnaire. No formal sample size calculation was done. We intended to do the study as a pilot survey as there is no data available in the literature. We included as many patients as available during this time period.
An in-house expert-validated questionnaire was developed for the study. This questionnaire consisted of two parts: knowledge assessment and attitude assessment. The KAP survey was interviewer-administered and quantitative. The 27 questions covered knowledge and attitude aspects. The knowledge section consisted of 13 questions. (minimum possible score 0 and maximum possible score 13). Based on the score, the knowledge assessment was evaluated as follows: excellent knowledge more than 75%; good knowledge 45 to 75%; poor knowledge less than 45%. The attitude section consisted of 14 questions, with each question formatted to have five possible choices (strongly agree, agree, not sure, disagree, strongly disagree). The total marks for the attitude assessment were 60 (maximum possible score = 60, minimum possible score = 0). Based on the score, the attitude assessment was evaluated as follows: favorable attitude-attitude score more than 75%; neutral attitude-attitude score between 50 and 75%; unfavorable attitude-attitude score less than 50%.
Preliminary Work on Quality Control
To optimize the scientific rigor of this research, the following processes were done: Translation and back translation: Questionnaire questions were developed first in English with a panel of medical experts. These questions were then translated into Hindi by specialist medical translators and then back into English again by a separate, nonmedical translator before they were finally checked for consistency by the research team.
Peer and expert review: A panel of medical and research experts was formed to review the research design and questionnaire development.
Pretesting using cognitive interviewing: A process of cognitive interviewing was used to study the interpretation of the questionnaire questions on lay volunteers. This involves verbalizing the thought processes occurring while reading the questions.
Statistical Analysis
Demographic characteristics were analyzed using mean and median (range). Each knowledge question has a binary response, and each attitude question has a categorical response. The total score was also calculated for knowledge and attitude separately. The association of these scores with demographic and disease factors was determined using Student's t-test. STATA v13 software was used for analysis and p-value less than 0.05 was considered significant.
Ethics
The procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the Helsinki Declaration of 1964, as revised in 2013. Ethical Approval was obtained from the Institutional Ethics Committee vide letter no. IEC- 186/3/2018 dated 19.03.18 (see supplementary material). Informed consent was taken from all the participants.
Results
A total of 84 women patients participated in the study aged between 25 and 75 years among which 69/84 (82%) had breast cancer and 15/84 (18%) had ovarian cancer (see [Table 1]). Among the sample population, 77/84 (92%) did not recall having any relatives with cancer. Twenty-six of eighty-four (31%) patients reported that they feared that cancer may run in their family ([Supplementary Fig. S1], available in the online version).
Baseline characteristics |
||
---|---|---|
Females |
Males |
|
1. Sex of patients |
84 (100%) |
0 |
Breast cancer |
Ovarian cancer |
|
2. Diagnosis of patients |
69 (82%) |
15 (18%) |
Yes |
No |
|
3. Do you have any other relatives with cancer? |
7 (8%) |
77 (92%) |
Yes |
No |
|
4. Are they related to you by blood? |
6 (7%) |
78(93%) |
Yes |
No |
|
5. Do you fear that cancer may run in your family? |
58 (69%) |
26 (31%) |
Knowledge questionnaires |
Yes |
No |
---|---|---|
KQ1: Do you know certain cancers run in the family? |
29 (35%) |
55 (65%) |
KQ2: Do you know that breast, ovary, or colorectal cancer may run in certain families? |
18 (21%) |
66 (79%) |
KQ3: Do you know that certain genes may be responsible for cancer? |
13 (15%) |
71 (85%) |
KQ4: Have you heard of BRCA genes? |
6 (7%) |
78 (93%) |
KQ5: Do you think some cancers are preventable? |
64 (76%) |
20 (24%) |
KQ6: Do you think breast cancer and ovary cancer can occur together in certain cases? |
30 (36%) |
54 (64%) |
KQ7: Have you heard of preventive surgery to prevent familial ovarian cancer/ breast cancer? |
71 (85%) |
13 (15%) |
KQ8: Do you know preventive ovarian surgery is done after completion of the family generally after 40 years of age? |
35 (42%) |
49 (58%) |
KQ9: Have you heard of genetic counseling? |
23 (27%) |
61 (73%) |
KQ10: Do you know blood tests are available to detect whether cancer runs in your family or not? |
62 (74%) |
22 (26%) |
KQ11: Do you know both blood and saliva samples are taken for cancer tests? |
6 (7%) |
78 (93%) |
KQ12: Do you know that the result of this test will be disclosed only to you and no one else? |
19 (23%) |
65 (77%) |
KQ13: Do you think genetic counseling is essential before genetic testing? |
54 (64%) |
30 (36%) |
Briefly, 70/84 (83%) of patients agreed that they would opt for a genetic test if available, and 54/84 (64%) mentioned that they would opt for it even if they had to pay the expenses. A total of 62/84 (74%) of patients believed that these sorts of tests would impact their future decision-making. Around 79/84 (94%) of respondents stated that they would recommend it to their relatives. Given an opportunity, 76/84 (90%) of the participant wanted to interact with a genetic counselor. While 60/84 (72%) of the population wanted to interact with a counselor over a telephonic call, only 41/84 (49%) wanted to interact in person. Approximately 75/84 (89%) of participants were interested in learning more about medical or surgical options for cancer prevention ([Fig. 2]). The average attitude score of the patients was 40.78 ± 8.05. With a maximum possible score of 52, this amounted to 78.42 ± 15.48%. This meant that the sample population had a neutral attitude toward learning more about genetic testing.
We compared the mean total knowledge marks and mean total attitude marks of our patients dividing them into binary groups according to age (>/< 50 years), primary diagnosis (breast versus ovary) and whether they had a relative with cancer or not. There were no significant differences between these groups (see [Table 3]).
Knowledge marks |
Attitude marks |
||||||
---|---|---|---|---|---|---|---|
Age |
p-Value |
p-Value |
|||||
≤50 |
n = 49 |
5.08 ± 2.47 |
0.87 |
Not significant |
40.69 ± 8.07 |
0.90 |
Not significant |
≥50 |
n = 35 |
5.17 ± 2.68 |
40.91 ± 8.14 |
||||
Diagnosis |
|||||||
Breast cancer |
n = 69 |
4.95 ± 2.55 |
0.21 |
Not significant |
41.44 ± 7. 54 |
0.10 |
Not significant |
Ovarian cancer |
n = 15 |
5.86 ± 2.47 |
37.73 ± 9.81 |
||||
Relative with cancer |
|||||||
Yes |
n = 7 |
4.42 ± 1.18 |
0.45 |
Not significant |
40.78 ± 7.83 |
0.98 |
Not significant |
No |
n = 77 |
5.18 ± 2.60 |
40.78 ± 11.01 |
References
- Momenimovahed Z, Tiznobaik A, Taheri S, Salehiniya H. Ovarian cancer in the world: epidemiology and risk factors. Int J Womens Health 2019; 11: 287-299
- Malhotra H, Kowtal P, Mehra N. et al. Genetic counseling, testing, and management of HBOC in India: an expert consensus document from Indian Society of Medical and Pediatric Oncology. JCO Glob Oncol 2020; 6: 991-1008
- Kadri MSN, Patel KM, Bhargava PA. et al. Mutational landscape for Indian hereditary breast and ovarian cancer cohort suggests need for identifying population specific genes and biomarkers for screening. Front Oncol 2021; 10: 568786
- Gupta S, Rajappa S, Advani S. et al. Prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and fallopian tube cancer in India: a multicenter cross-sectional study. JCO Glob Oncol 2021; 7: 849-861
- Singh J, Thota N, Singh S. et al. Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Breast Cancer Res Treat 2018; 170 (01) 189-196
- Mittal A, Deo SVS, Gogia A. et al. Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India. Ecancermedicalscience 2022; 16: 1434
- Paradiso AV, Digennaro M, Patruno M, De Summa S, Tommasi S, Berindan-Neagoe I. BRCA germline mutation test for all woman with ovarian cancer?. BMC Cancer 2019; 19 (01) 641
- Yadav S, Hu C, Hart SN. et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol 2020; 38 (13) 1409-1418
- Mannan AU, Singh J, Lakshmikeshava R. et al. Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. J Hum Genet 2016; 61 (06) 515-522
- Petrova D, Cruz M, Sánchez MJ. BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications. Breast 2022; 61: 66-76
- Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev 2018; 4 (04) CD002748
- Puski A, Hovick S, Senter L, Toland AE. Involvement and influence of healthcare providers, family members, and other mutation carriers in the cancer risk management decision-making process of BRCA1 and BRCA2 mutation carriers. J Genet Couns 2018; 27 (05) 1291-1301
- Yamauchi H, Takei J. Management of hereditary breast and ovarian cancer. Int J Clin Oncol 2018; 23 (01) 45-51
- Singh S, Shrivastava JP, Dwivedi A. Breast cancer screening existence in India: a nonexisting reality. Indian J Med Paediatr Oncol 2015; 36 (04) 207-209
- Ormond KE, Laurino MY, Barlow-Stewart K. et al. Genetic counseling globally: where are we now?. Am J Med Genet C Semin Med Genet 2018; 178 (01) 98-107
- ;Hann KEJ, Freeman M, Fraser L. et al; PROMISE study team. Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review. BMC Public Health 2017; 17 (01) 503
- Kwong A, Shin VY, Ho JC. et al. Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. J Med Genet 2016; 53 (01) 15-23
- Khatak S, Wadhwa N, Pandey AK. et al. Public perception of genetic counseling in India: opening mind eyes. Shodh Sarita 2020; 7: 104-111
- Singh M, Prasad CP, Singh TD, Kumar L. Cancer research in India: challenges & opportunities. Indian J Med Res 2018; 148 (04) 362-365
- Monaghesh E, Hajizadeh A. The role of telehealth during COVID-19 outbreak: a systematic review based on current evidence. BMC Public Health 2020; 20 (01) 1193
Address for correspondence
Publication History
Article published online:
12 May 2023
© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
References
- Momenimovahed Z, Tiznobaik A, Taheri S, Salehiniya H. Ovarian cancer in the world: epidemiology and risk factors. Int J Womens Health 2019; 11: 287-299
- Malhotra H, Kowtal P, Mehra N. et al. Genetic counseling, testing, and management of HBOC in India: an expert consensus document from Indian Society of Medical and Pediatric Oncology. JCO Glob Oncol 2020; 6: 991-1008
- Kadri MSN, Patel KM, Bhargava PA. et al. Mutational landscape for Indian hereditary breast and ovarian cancer cohort suggests need for identifying population specific genes and biomarkers for screening. Front Oncol 2021; 10: 568786
- Gupta S, Rajappa S, Advani S. et al. Prevalence of BRCA1 and BRCA2 mutations among patients with ovarian, primary peritoneal, and fallopian tube cancer in India: a multicenter cross-sectional study. JCO Glob Oncol 2021; 7: 849-861
- Singh J, Thota N, Singh S. et al. Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Breast Cancer Res Treat 2018; 170 (01) 189-196
- Mittal A, Deo SVS, Gogia A. et al. Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India. Ecancermedicalscience 2022; 16: 1434
- Paradiso AV, Digennaro M, Patruno M, De Summa S, Tommasi S, Berindan-Neagoe I. BRCA germline mutation test for all woman with ovarian cancer?. BMC Cancer 2019; 19 (01) 641
- Yadav S, Hu C, Hart SN. et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol 2020; 38 (13) 1409-1418
- Mannan AU, Singh J, Lakshmikeshava R. et al. Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. J Hum Genet 2016; 61 (06) 515-522
- Petrova D, Cruz M, Sánchez MJ. BRCA1/2 testing for genetic susceptibility to cancer after 25 years: A scoping review and a primer on ethical implications. Breast 2022; 61: 66-76
- Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev 2018; 4 (04) CD002748
- Puski A, Hovick S, Senter L, Toland AE. Involvement and influence of healthcare providers, family members, and other mutation carriers in the cancer risk management decision-making process of BRCA1 and BRCA2 mutation carriers. J Genet Couns 2018; 27 (05) 1291-1301
- Yamauchi H, Takei J. Management of hereditary breast and ovarian cancer. Int J Clin Oncol 2018; 23 (01) 45-51
- Singh S, Shrivastava JP, Dwivedi A. Breast cancer screening existence in India: a nonexisting reality. Indian J Med Paediatr Oncol 2015; 36 (04) 207-209
- Ormond KE, Laurino MY, Barlow-Stewart K. et al. Genetic counseling globally: where are we now?. Am J Med Genet C Semin Med Genet 2018; 178 (01) 98-107
- ;Hann KEJ, Freeman M, Fraser L. et al; PROMISE study team. Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review. BMC Public Health 2017; 17 (01) 503
- Kwong A, Shin VY, Ho JC. et al. Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. J Med Genet 2016; 53 (01) 15-23
- Khatak S, Wadhwa N, Pandey AK. et al. Public perception of genetic counseling in India: opening mind eyes. Shodh Sarita 2020; 7: 104-111
- Singh M, Prasad CP, Singh TD, Kumar L. Cancer research in India: challenges & opportunities. Indian J Med Res 2018; 148 (04) 362-365
- Monaghesh E, Hajizadeh A. The role of telehealth during COVID-19 outbreak: a systematic review based on current evidence. BMC Public Health 2020; 20 (01) 1193