Cancer Research and Treatment

Original Articles

Gastrointestinal cancer

Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital: Min Hyun Kim, Duck-Woo Kim, Hye Seung Lee, Su Kyung Bang, Soo Hyun Seo, Kyung Un Park, Heung-Kwon Oh, Sung-Bum Kang; Cancer Res Treat. 2023;55(1):179-188. Published online March 21, 2022; DOI: https://doi.org/10.4143/crt.2021.1512

Purpose
Universal screening for Lynch syndrome (LS) refers to routine tumor testing for microsatellite instability (MSI) among all patients with colorectal cancer (CRC). Despite its widespread adoption, real-world data on the yield is lacking in Korean population. We studied the yield of adopting universal screening for LS in comparison with pedigree-based screening in a tertiary center.
Materials and Methods
CRC patients from 2007-2018 were reviewed. Family histories were obtained and were evaluated for hereditary nonpolyposis colorectal cancer (HNPCC) using Amsterdam II criteria. Tumor testing for MSI began in 2007 and genetic testing was offered using all available clinicopathologic data. Yield of genetic testing for LS was compared for each approach and step.
Results
Of the 5,520 patients, tumor testing was performed in 4,701 patients (85.2%) and family histories were obtained from 4,241 patients (76.8%). Hereditary CRC (LS or HNPCC) was present in 69 patients (1.3%). MSI-high was present in 6.9%, and 25 patients had confirmed LS. Genetic testing was performed in 41.2% (47/114) of MSI-high patients, out of which 40.4% (19/47) were diagnosed with LS. There were six additional LS patients found outside of tumor testing. For pedigree-based screening, Amsterdam II criteria diagnosed 55 patients with HNPCC. Fifteen of these patients underwent genetic testing, and 11 (73.3%) were diagnosed with LS. Two patients without prior family history were diagnosed with LS and relied solely on tumor testing results.
Conclusion
Despite widespread adoption of routine tumor testing for MSI, this is not a fail-safe approach to screen all LS patients. Obtaining a thorough family history in combination with universal screening provides a more comprehensive ‘universal’ screening method for LS.

Citations

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Hereditary Colorectal Cancer: From Diagnosis to Surgical Options
Rami James N. Aoun, Matthew F. Kalady
Clinics in Colon and Rectal Surgery.2025; 38(03): 179. CrossRef
Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment
Hyo Seon Ryu, Hyun Jung Kim, Woong Bae Ji, Byung Chang Kim, Ji Hun Kim, Sung Kyung Moon, Sung Il Kang, Han Deok Kwak, Eun Sun Kim, Chang Hyun Kim, Tae Hyung Kim, Gyoung Tae Noh, Byung-Soo Park, Hyeung-Min Park, Jeong Mo Bae, Jung Hoon Bae, Ni Eun Seo, Cha
Annals of Coloproctology.2024; 40(2): 89. CrossRef
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker
Hereditary Cancer in Clinical Practice.2024;[Epub] CrossRef
Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer
Hyunho Han, Minyong Kang, Seok-Soo Byun, Seok Joong Yun
Journal of Urologic Oncology.2023; 21(2): 128. CrossRef
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Hereditary Cancer in Clinical Practice.2023;[Epub] CrossRef
Hereditary Colorectal Cancer: State of the Art in Lynch Syndrome
Antonio Nolano, Alessia Medugno, Silvia Trombetti, Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
Cancers.2022; 15(1): 75. CrossRef

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Gynecologic cancer

Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation: Go Woon Jeong, Wonkyo Shin, Dong Ock Lee, Sang-Soo Seo, Sokbom Kang, Sang-Yoon Park, Myong Cheol Lim; Cancer Res Treat. 2021;53(1):207-211. Published online August 11, 2020; DOI: https://doi.org/10.4143/crt.2020.364

Abstract PDF PubReader ePub

Purpose
The BRCA1 or BRCA2 gene is transmitted in an autosomal dominant fashion, and genetic testing of first-degree relatives of patients with family-specific mutation (FSM) is recommended. This study examined factors affecting the uptake of FSM testing among relatives of patients with peritoneal, ovarian, or fallopian tube (POFT) cancer with confirmed BRCA1 or BRCA2 germline mutation.
Materials and Methods
Data from medical charts of 392 eligible patients and their relatives who had undergone outpatient genetic counseling/testing were retrospectively reviewed. Clinical factors were compared between family members who had and had not undergone genetic counseling/testing.
Results
The uptake of FSM testing was 30.5% (129/423) among first-degree living relatives and 53.5% (69/129) within the overall family unit. The average time from genetic testing of the proband to the first FSM test within a family was 168 days (range, 23 to 681 days). Having a living father (33.8% vs. 13.3%, p=0.007) and daughter (79.4% vs. 60.3%, p=0.019) increased the uptake of FSM testing. FSM testing was more likely among female than among male relatives of cancer patients (40.9% vs. 17.6%, p < 0.001).
Conclusion
Approximately one-third of first-degree relatives of patients with a POFT cancer with BRCA1 or BRCA2 mutation underwent FSM testing. Having a living father or daughter was a factor affecting the uptake of FSM testing, which was higher among female than among male relatives of the proband. This discrepancy might be due to a misconception that the BRCA gene is associated with women rather than with men.

Citations

Citations to this article as recorded by

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Public Health Genomics.2024; 27(1): 100. CrossRef
Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis
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Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics
Brittany L. Bychkovsky, Min‐Tzu Lo, Amal Yussuf, Carrie Horton, Marcy Richardson, Holly LaDuca, Judy E. Garber, Huma Q. Rana
Cancer.2022; 128(6): 1275. CrossRef
Health equity in the implementation of genomics and precision medicine: A public health imperative
Muin J. Khoury, Scott Bowen, W. David Dotson, Emily Drzymalla, Ridgely F. Green, Robert Goldstein, Katherine Kolor, Leandris C. Liburd, Laurence S. Sperling, Rebecca Bunnell
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Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis
Melissa K. Frey, Muhammad Danyal Ahsan, Hannah Bergeron, Jenny Lin, Xuan Li, Rana K. Fowlkes, Priyanka Narayan, Roni Nitecki, Jose Alejandro Rauh-Hain, Haley A. Moss, Becky Baltich Nelson, Charlene Thomas, Paul J. Christos, Jada G. Hamilton, Eloise Chapma
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6,569 View
151 Download
9 Web of Science
8 Crossref

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