Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

doi:10.1186/s13053-022-00233-1

. 2022 Jul 15;20(1):27.

doi: 10.1186/s13053-022-00233-1.

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

Sowmya Jonnagadla^{1

2

3}, Sharelle L Joseland^{1

2}, Sibel Saya^{2

4}, Nicole den Elzen^{1

2

3}, Joanne Isbister⁵, Ingrid M Winship^{5

6}, Daniel D Buchanan^{7

8

9}

Affiliations

¹ Department of Clinical Pathology, Colorectal Oncogenomics Group, Melbourne Medical School, The University of Melbourne, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, Victoria, 3010, Australia.
² The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, 3000, Australia.
³ Department of Paediatrics, The University of Melbourne, Parkville, Victoria, 3010, Australia.
⁴ Department of General Practice, The University of Melbourne, Parkville, Victoria, 3010, Australia.
⁵ Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia.
⁶ Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia.
⁷ Department of Clinical Pathology, Colorectal Oncogenomics Group, Melbourne Medical School, The University of Melbourne, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, Victoria, 3010, Australia. daniel.buchanan@unimelb.edu.au.
⁸ The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, 3000, Australia. daniel.buchanan@unimelb.edu.au.
⁹ Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia. daniel.buchanan@unimelb.edu.au.

PMID: 35840994
PMCID: PMC9284782
DOI: 10.1186/s13053-022-00233-1

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

Sowmya Jonnagadla et al. Hered Cancer Clin Pract. 2022.

. 2022 Jul 15;20(1):27.

doi: 10.1186/s13053-022-00233-1.

Authors

Sowmya Jonnagadla^{1

2

3}, Sharelle L Joseland^{1

2}, Sibel Saya^{2

4}, Nicole den Elzen^{1

2

3}, Joanne Isbister⁵, Ingrid M Winship^{5

6}, Daniel D Buchanan^{7

8

9}

Affiliations

¹ Department of Clinical Pathology, Colorectal Oncogenomics Group, Melbourne Medical School, The University of Melbourne, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, Victoria, 3010, Australia.
² The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, 3000, Australia.
³ Department of Paediatrics, The University of Melbourne, Parkville, Victoria, 3010, Australia.
⁴ Department of General Practice, The University of Melbourne, Parkville, Victoria, 3010, Australia.
⁵ Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia.
⁶ Department of Medicine, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia.
⁷ Department of Clinical Pathology, Colorectal Oncogenomics Group, Melbourne Medical School, The University of Melbourne, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, Victoria, 3010, Australia. daniel.buchanan@unimelb.edu.au.
⁸ The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, 3000, Australia. daniel.buchanan@unimelb.edu.au.
⁹ Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, 3050, Australia. daniel.buchanan@unimelb.edu.au.

PMID: 35840994
PMCID: PMC9284782
DOI: 10.1186/s13053-022-00233-1

Abstract

Background: A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare professionals, patients, and their families in managing future cancer risks and clinical care.

Methods: This qualitative study aimed to explore the psychosocial and behavioral responses of endometrial cancer (EC) patients receiving a SLS diagnosis (EC-SLS). Semi-structured telephone interviews were conducted with 15 EC-SLS women, transcribed, and thematically analyzed.

Results: Most who interpreted their result as negative for Lynch syndrome (LS) believed they were at population-level risk of cancer and felt happy and relieved. Many participants who interpreted their result as inconclusive/not definitive for LS were confused about their cancer risk and experienced negative emotions of anger and frustration. Despite variation in colorectal cancer screening recommendations reported by participants, most adhered to the advice given. Almost all participants communicated their genetic test result to immediate family members; however, communication of family cancer risk management advice was more limited due to most participants reporting not receiving family screening advice. A family history of cancer and a professional healthcare background influenced participants' engagement in regular cancer screening.

Conclusion: These findings highlight variability in the psychosocial and behavioral responses associated with EC-SLS, providing insight into how healthcare professionals can optimally manage and support such individuals.

Keywords: Cancer screening; DNA mismatch repair; Endometrial cancer; Lynch-like syndrome; Psychosocial; Suspected Lynch syndrome.

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Conflict of interest statement

The authors have no conflicts of interest to declare that are relevant to the content of this article.

Cited by

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. J Transl Med. 2023. PMID: 37101184 Free PMC article.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. medRxiv [Preprint]. 2023 Mar 1:2023.02.27.23285541. doi: 10.1101/2023.02.27.23285541. medRxiv. 2023. Update in: J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1. PMID: 36909643 Free PMC article. Updated. Preprint.

References

1. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149–1167. doi: 10.1002/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5. - DOI - PubMed
1. Cohen SA, Leininger A. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:147–158. doi: 10.2147/TACG.S51483. - DOI - PMC - PubMed
1. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117(2):206–212. doi: 10.1001/archinte.1966.03870080050009. - DOI - PubMed
1. Vasen HFA, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812. doi: 10.1136/gutjnl-2012-304356. - DOI - PMC - PubMed
1. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology. 2014;147(2):502–526. doi: 10.1053/j.gastro.2014.04.001. - DOI - PubMed

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[1] Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149–1167. doi: 10.1002/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5. - DOI - PubMed

[2] Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149–1167. doi: 10.1002/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5. - DOI - PubMed

[3] Cohen SA, Leininger A. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:147–158. doi: 10.2147/TACG.S51483. - DOI - PMC - PubMed

[4] Cohen SA, Leininger A. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:147–158. doi: 10.2147/TACG.S51483. - DOI - PMC - PubMed

[5] Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117(2):206–212. doi: 10.1001/archinte.1966.03870080050009. - DOI - PubMed

[6] Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med. 1966;117(2):206–212. doi: 10.1001/archinte.1966.03870080050009. - DOI - PubMed

[7] Vasen HFA, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812. doi: 10.1136/gutjnl-2012-304356. - DOI - PMC - PubMed

[8] Vasen HFA, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812. doi: 10.1136/gutjnl-2012-304356. - DOI - PMC - PubMed

[9] Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology. 2014;147(2):502–526. doi: 10.1053/j.gastro.2014.04.001. - DOI - PubMed

[10] Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Gastroenterology. 2014;147(2):502–526. doi: 10.1053/j.gastro.2014.04.001. - DOI - PubMed

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Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

Affiliations

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

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Abstract

Conflict of interest statement

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Abstract

Conflict of interest statement

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