Article
Biochemistry & Molecular Biology
Mar Infante, Monica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernandez, Noemi Martinez, Mercedes Duran
Summary: The probability of carrying two pathogenic variants in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon. However, four cases of patients carrying different pathogenic variants in breast, ovarian, or colorectal cancer have been identified. The ages at diagnosis and severity of disease were similar to those in single gene carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Kathleen Barrus, Natasha Purington, Nicolette Chun, Uri Ladabaum, James M. Ford
Summary: In cancer treatment, somatic tumor sequencing is commonly used to tailor therapy, but it can also identify patients with germline pathogenic variants causing cancer predisposition syndromes like Lynch syndrome. However, clinicians seem to be unaware of this implication and fail to refer a significant proportion of these patients for genetic testing.
Article
Oncology
Antonino Pantaleo, Giovanna Forte, Filomena Cariola, Anna Maria Valentini, Candida Fasano, Paola Sanese, Valentina Grossi, Antonia Lucia Buonadonna, Katia De Marco, Martina Lepore Signorile, Anna Filomena Guglielmi, Andrea Manghisi, Gianluigi Gigante, Raffaele Armentano, Vittoria Disciglio, Cristiano Simone
Summary: This study clinically and molecularly characterized CRC patients with LS features. The majority of patients had pathogenic or likely pathogenic variants in MMR genes, highlighting the importance of personalized medicine in LS and hereditary cancer syndromes.
Article
Oncology
Boya Guo, Sarah Knerr, Tia L. Kauffman, Kathleen F. Mittendorf, Erin Keast, Marian J. Gilmore, Heather Spencer Feigelson, Frances L. Lynch, Kristin R. Muessig, Sonia Okuyama, Jamilyn M. Zepp, David L. Veenstra, Li Hsu, Amanda I. Phipps, Sara Lindstrom, Michael C. Leo, Katrina A. B. Goddard, Benjamin S. Wilfond, Beth Devine
Summary: This study describes the use of risk management interventions following genetic testing in the CHARM study, which targeted low income, low literacy, and other underserved populations. The results suggest that implementing the CHARM model increased access to evidence-based genetic services and provided opportunities for patients to engage in recommended preventive care.
Article
Gastroenterology & Hepatology
Ido Laish, Yael Goldberg, Eitan Friedman, Inbal Kedar, Lior Katz, Zohar Levi, Rachel Gingold-Belfer, Uri Kopylov, Dan Feldman, Gili Levi-Reznick, Elizabeth Half
Summary: The study evaluated the yield of germline mutational analysis in the diagnosis of LS in young Israeli colorectal adenomatous polyp patients, identifying 18 patients with pathogenic mutations in actionable genes and highlighting the importance of adenoma characteristics in the PREMM5 score for LS carriers.
DIGESTIVE AND LIVER DISEASE
(2021)
Article
Genetics & Heredity
Miseon Kim, Myong Cheol Lim, Eun Ji Nam, Dan Huang, Sue Kim, Heon Jong Yoo, Yoo-Young Lee, Yoon-Jung Chang
Summary: The survey indicated variations in awareness, practices, and patterns of genetic counseling and testing for hereditary gynecologic cancers among healthcare providers in Korea. Discussions and the development of an integrated manual are necessary to address these issues.
JOURNAL OF GENETIC COUNSELING
(2022)
Review
Multidisciplinary Sciences
Rosie O'Shea, Natalie Taylor, Ashley Crook, Chris Jacobs, Yoon Jung Kang, Sarah Lewis, Nicole M. Rankin
Summary: Integrating genetic testing into routine oncology care could improve access to testing. This systematic review found that complex interventions, such as patient or health professional education and interdisciplinary practice, may have a positive effect on increasing access to genetic counselling and testing completion rates in oncology. Research of sound methodological quality exploring a wider range of outcomes pre and post implementation, informed by theory, is needed to inform future service delivery models for the integration of genetics into oncology services.
Article
Genetics & Heredity
Jessica Ezzell Hunter, Leslie Riddle, Galen Joseph, Laura M. Amendola, Marian J. Gilmore, Jamilyn M. Zepp, Elizabeth Shuster, Joanna E. Bulkley, Kristin R. Muessig, Katherine P. Anderson, Katrina A. B. Goddard, Benjamin S. Wilfond, Michael C. Leo, CHARM Study Team
Summary: This study explored motivations for and barriers to family communication of genetic information, finding that most participants were willing to share genetic information with their relatives, driven by the desire to provide important information about genetic risk and interest in the results. Reasons for not sharing included limited contact with relatives, perception of limited clinical utility for relatives, and concerns about stigma or taboo associated with discussing genetic information. The results demonstrate a general willingness to share genetic information as part of family health communication.
GENETICS IN MEDICINE
(2023)
Article
Oncology
Deborah Cragun, Gretter Manso, Stefania Alastre Arcusa, Brenda Zuniga, Julie Dutil, Marcia Cruz, Tuya Pal
Summary: The lack of Spanish-speaking genetic counselors hinders the delivery of hereditary cancer pre-test education to Spanish-language patients. To address this issue, a study evaluated a web-based genetic education tool delivered in Spanish. Results indicated significant increases in knowledge and decisional empowerment among participants. The qualitative data also showed positive feedback on the usability and content of the tool. This study suggests that the Spanish-language tool is a user-friendly and scalable solution to help inform and empower individuals to decide about cancer genetic testing, while acknowledging the potential benefits of genetic counseling prior to testing.
Editorial Material
Obstetrics & Gynecology
Chiara Dallagiovanna, Francesca Filippi, Alessandra Riccaboni, Paola Vigano', Fabio Martinelli, Edgardo Somigliana, Maria Teresa Ricci, Marco Vitellaro
Summary: PGT-M is a technique used in assisted reproductive technology to prevent the transmission of genetic disorders. However, the use of PGT-M varies for different diseases, with Lynch syndrome having a lower uptake. This may be due to underdiagnosis and different patient perceptions of the conditions and management options.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Oncology
Hannah C. Karpel, Maria Smith, Allison Brodsky, Bhavana Pothuri
Summary: This study aimed to increase the rate of genetic counseling referrals and testing for Lynch Syndrome in endometrial cancer patients through the implementation of a specific protocol. The results showed a significant increase in the frequency of genetic counseling referrals after the protocol initiation. However, there was no statistically significant difference in the rate of genetic testing. This study highlights the importance of Lynch Syndrome screening in clinical practice.
GYNECOLOGIC ONCOLOGY
(2023)
Article
Genetics & Heredity
Tara J. Schmidlen, Sara L. Bristow, Kathryn E. Hatchell, Edward D. Esplin, Robert L. Nussbaum, Eden V. Haverfield
Summary: This study compared the uptake rates of cascade genetic testing under different indications and found that the testing rate was higher among families of diagnostic probands. A personal or family history of disease may be a contributing factor to the higher testing rate.
FRONTIERS IN GENETICS
(2022)
Article
Surgery
Kelsey E. Koch, Paolo Goffredo, Jennifer E. Hrabe, Irena Gribovskaja-Rupp, Anthony N. Snow, Andrew M. Bellizzi, Muneera R. Kapadia
Summary: The study found that most MMR-deficient patients were identified and referred to genetic counseling preoperatively, though not all patients received counseling. Among LS patients diagnosed preoperatively, half underwent extended resection, suggesting the need for further research on barriers to counseling and decision-making around resection extent.
AMERICAN JOURNAL OF SURGERY
(2021)
Article
Oncology
Ariadna Sanchez, Luis Bujanda, Miriam Cuatrecasas, Alex Bofill, Cristina Alvarez-Urturi, Goretti Hernandez, Lara Aguilera, Sabela Carballal, Joan Llach, Cristina Herrera-Pariente, Mar Iglesias, Liseth Rivero-Sanchez, Gerhard Jung, Lorena Moreno, Teresa Ocana, Carolina Bayarri, Maria Pellise, Antoni Castells, Sergi Castellvi-Bel, Francesc Balaguer, Leticia Moreira
Summary: The study found a 21.3% prevalence of MMRd tumors and a 10.1% prevalence of LS among small bowel adenocarcinoma patients. In 60% of patients with MMRd tumors, a germline mutation was identified, supporting the implementation of universal MMR tumor testing for the identification of LS families.
Article
Genetics & Heredity
Qingling Bi, Shasha Huang, Hui Wang, Xue Gao, Minyue Ma, Mingyu Han, Sijia Lu, Dongyang Kang, Aida Nourbakhsh, Denise Yan, Susan Blanton, Xuezhong Liu, Yongyi Yuan, Yuanqing Yao, Pu Dai
Summary: A PGT procedure combining MALBAC and SNPs linkage analyses with a single low-depth next-generation sequencing run was implemented to evaluate the clinical validity of PGT for preventing hereditary HL in the Chinese population. The procedure was demonstrated to be effective and lead to satisfactory clinical outcomes.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)