This episode is hosted by Josie Baker, MS, LGC, and features Maegan Roberts, MS, LGC, a Genetic Counselor from the Ohio State University.The in-depth discussions focus on CDH1 and hereditary diffuse gastric cancer, covering the history of discovery, evolving penetrance estimates, and updated risk insights. They explore differences between IGCLC’s more conservative European approach and NCCN’s U.S.-focused guidelines, offering practical advice on which to follow. The conversation highlights the challenges of genetic counseling, including how to approach discussions with honesty and confidence. Megan Roberts also shares her perspective from her work with the ClinGen CDH1 Variant Curation Expert Panel, IGCLC, and the Ohio State University CDH1-Associated BCDS Registry.Do you have a patient with a CDH1 variant and clinical features consistent with BCDS? The Ohio State University CDH1-Associated BCDS Registry is actively recruiting participants. This research initiative aims to better understand cancer risks and phenotypic characteristics associated with CDH1-related Blepharocheilodontic Syndrome (BCDS). Learn more HERE.

This episode is hosted by Emma Keel, MS, CGC, and features Ying Liu, MD, MPH, a Gynecologic Medical Oncologist & Clinical Geneticist, Memorial Sloan Kettering Cancer Center, and Nicole D. Edison, MD, Clinical Associate of Obstetrics & Gynecology, University of Chicago.The in-depth discussion focuses on managing gynecologic cancer risk in patients with Lynch syndrome, spotlighting the significant updates to the National Comprehensive Cancer Network (NCCN) guidelines released in September 2024 that have shifted the clinical approach for these patients. 

In partnership, the CGA-IGC Education and Research Committees are pleased to present a three-part podcast series focused on research collaborations. Emma Keel, MS, CCG spoke with Melyssa Aronson, MSc, CGC and Lucie Stengs, BSc, from the International Replication Repair Deficiency Consortium (IRRDC). This episode is essential listening for clinicians, researchers, and anyone interested in hereditary GI cancer syndromes research. Learn about this consortium's evolution from a local registry to an international collaboration studying rare genetic disorders, particularly CMMRD. It provides insights about the progress in developing diagnostic tools, establishing a biobank, and conducting research on potential treatments, including immunotherapy and vaccines. Also the challenges of managing the growing consortium, emphasized the importance of patient advocacy and international collaboration. If you have any questions or are interested in joining the consortium please contact or Melyssa Aronson (melyssa.aronson@sinaihealth.ca) or Lucie Stengs (lucie.stengs@sickkids.ca).

In partnership, the CGA-IGC Education and Research Committees are pleased to present the second episode of a three-part series focused on Research Collaborations. This episode is hosted by Emma Keel, MS, CCG, who spoke with Ophir Gilad, MD, the lead of the Gastric CDH1 Multicenter Consortium.This episode is essential listening for clinicians, researchers, and anyone interested in hereditary cancer syndromes. It showcases the power of collaboration and the potential for building successful research consortiums to advance our understanding of complex genetic conditions like CDH1-related gastric cancer.

In partnership, the CGA-IGC Education and Research Committees are pleased to present the first episode of a three-part series focused on Research Collaborations.  This episode is hosted by Joshua Melson, MD, and features CGA-IGC past president Swati Patel, MD, MS, along with recipients of the CGA-IGC & CCARE Lynch Syndrome Research Award and CGA-IGC committee members, Holli Loomans-Kropp, PhD, MPH and Zachariah H. Foda, MD, PhD, all of whom are part of the LINEAGE consortium. This episode is essential listening for clinicians, researchers, and anyone interested in hereditary GI cancer syndromes, as well as the future of precision medicine, genetic epidemiology, and patient-centered research. It also offers valuable insights and tips for those looking to establish a research consortium or collaborative, emphasizing the importance of a solid governance structure, data use agreements, and the need to involve your institution's legal departments early in the process.

Este episodio está copresentado por Joshua Sommovilla, MD, y Thomas (T.J.) Slavin, MD, FACMGG, DABCC, y cuenta con la participación de Pål Møller, MD, PhD, científico principal del Hospital Universitario de Oslo (Noruega).Juntos profundizan en el artículo del Dr. Møller «Incidencias de adenomas colorrectales y cánceres bajo vigilancia colonoscópica sugieren una vía acelerada “Big Bang” hacia el CCR en tres de los cuatro Síndromes de Lynch» (in English).Lea la entrada de nuestro blog (in English) para saber más sobre este podcast AQUÍ

This episode is co-hosted by Joshua Sommovilla, MD and Thomas (T.J.) Slavin, MD, FACMGG, DABCC and features Pål Møller, MD, PhD, a Senior Scientist at the Oslo University Hospital, NorwayTogether they delve into the Dr Møller's paper "Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch Syndromes."Read our blog post to learn more about this podcast HERE

En colaboración con LA-GETH, este podcast, en el que participan Karin Álvarez Valenzuela, PhD, de Chile, y Adriana Della Valle, MD, de Uruguay. El podcast titulado "Acceso a la Atención Genética en Comunidades Diversas: La Experiencia Latinoamericana" explora los desafíos únicos y perspectivas relacionadas con el acceso a las pruebas genéticas en poblaciones diversas de América Latina. Los expertos discuten la importancia de enfoques adaptados culturalmente para las pruebas genéticas y el potencial para abordar las disparidades en el sistema de salud. Además, este podcast destaca la investigación en curso y la necesidad de datos inclusivos para servir mejor a las poblaciones diversas en América Latina.

In collaboration with LA-GETH, this podcast titled " Access to Genetic Care in Diverse Communities: The Latin American Experience" features Karin Álvarez Valenzuela, PhD from Chile, and Adriana Della Valle, MD, from Uruguay, and explores the unique challenges and insights surrounding genetic testing in diverse Latin American populations.  Experts discuss the importance of culturally tailored approaches to genetic testing and the potential for addressing health disparities. Furthermore, this podcast also highlights ongoing research and the need for inclusive data to better serve diverse populations in Latin America.

This new podcast series, initiated by the CGA-IGC Research Committee in 2023, highlights the work of previous CGA-IGC Research Grant recipients. The second episode is hosted by Catie Neumann, MS., LCGC, a Cancer Genetic Counselor at Fox Chase Cancer Center, and features the 2022 grant recipient, Giovana Torrezan, PhD, an associate researcher at A.C. Camargo Cancer Center in Sao Paulo, Brazil.The podcast transcript is available here.

This episode is hosted by Veroushka Ballester, MD, MS, and features Elena M. Stoffel, MD, MPH, and Jennifer K. Maratt, MD, MS, both gastroenterologists.Together, Drs Stoffel and Maratt reflect on their mentoring connection. They delve into the significance of effective communication, mentorship planning, and vision. Their discussions also explore the dynamics of successful long-distance mentorship relationships. Tune in to gain valuable insights and practical advice! 

This episode is hosted by Josie Baker, MS, LGC, and features Jeremy Davis, MD, a National Cancer Institute (NIH) surgical oncologist.Together, they discuss Dr. Davis’ recent article published in the Journal of Medical Genetics  titled “Decision-making and regret in patients with germline CDH1 variants undergoing prophylactic total gastrectomy.”This podcast was released during  Patient Experience Week.   Read our blog post to learn more about this podcast HERE

This episode is hosted by Emma Keel, MS, CGC, and features Megan Hoenig, MS, MPH, CGC a certified genetic counselor at the Mayo Clinic. Together, they discuss the contribution of MLH1 constitutional methylation to Lynch syndrome diagnosis. They also explore disease definitions and mechanisms and current genetic testing guidelines while discussing the open questions in the field. This podcast was released on #LynchSyndromeAwarenessDay.  Read our blog post "MLH1 hypermethylation during #LynchSyndromeAwarenessDay" here https://tinyurl.com/3zkurynf

This episode is hosted by Thomas Slavin, MD, FACMG, DABMD, a Chief Scientific Officer at HALO Precision Diagnostics  and features Laura Valle, PhD, a Principal Investigator, at the Catalan Institute of Oncology, IDIBELL. They discuss the position statement on the APC I1307K allele and its association with cancer predisposition which was generated by a multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT). Read our blog post "Evidence based guidance for APC I1307K and Cancer Risk" hereStay tuned for more podcasts in 2024! If you missed any of our earlier 2023 podcasts, you can find them here

This episode is hosted by Thomas Slavin, MD, FACMG, DABMD, a Chief Scientific Officer, and Emma Keel, MS, CGC, a genetic counselor, who have the privilege of speaking with Danielle Ripley-Burgess as she shares her story and experience on "Life After Total Proctocolectomy in Lynch Syndrome.”We're incredibly grateful that she took the time to share her story with us, and we hope it will give our members and the broader #HereditaryGICancer community greater insight into the patient's perspective. 

This episode is hosted by Julie Yang, MD, a gastroenterologist at the Icann School of Medicine at Mount Sinai, New York, USA and features Toni T. Seppälä, M.D., PhD, a GI surgeon and Professor of Cancer Research at Tampere University, Helsinki, Finland. They discuss the results from a retrospective analysis published this year, “Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry,"  which can be found here. Read our blog post "Insights gained from the largest cohort of patients with pancreaticobiliary cancer and Lynch Syndrome" here

This episode is hosted by Josie Baker, MS, CGC, a genetic counselor at The Ohio State University, and features Rachael Lopez, MPH, RD, CSO, a clinical research dietitian at the National Institutes of Health. Together they discuss the considerations for individuals with Hereditary Diffuse Gastric Cancer Syndrome when considering a prophylactic gastrectomy. This episode highlights the professional experience when working with these individuals before and after surgery, as well as the challenges individuals may face during this process. 

The CGA-IGC Research Committee will host a new podcast series highlighting the work of the CGA-IGC Research Grant recipients. The first episode will feature the 2014 grant recipient, Dr. Allison Burton-Chase, and explore her research into Lynch syndrome patient-provider relationships, communication, and transition.The papers in the order they were referenced:  Hennig K, DeCoster B, Chu R, Parker W, Campo-Engelstein L, Burton-Chase AM. Patients educating health care providers on Lynch syndrome. Patient Experience Journal. 2018; 5(3):91-96. doi: 10.35680/ 2372-0247.1319.  https://pxjournal.org/cgi/viewcontent.cgi?article=1319&context=journal  Burton-Chase AM, Parker WM, Hennig K, Sisson F, Bruzzone LL. The Use of Social Media to Recruit Participants With Rare Conditions: Lynch Syndrome as an Example. JMIR Res Protoc. 2017 Jan 23;6(1):e12. doi: 10.2196/resprot.6066. PMID: 28115298; PMCID: PMC5294367. https://pubmed.ncbi.nlm.nih.gov/28115298/

This episode is hosted by Swati G. Patel, M.D., MS and features Sir John Burn, M.D., MBBS, BMedSci, a professor of Clinical Genetics at Newcastle University and senior leader in England's National Health Service.  Together they discuss the  10 year follow-up results of the seminal Cancer Prevention Programme (CAPP2) trial described in the Cancer Prevention Research article titled “Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo-Controlled Trial: Planned 10-Year Follow-up” which can be found here. Read our blog post Does starch prevent cancer in patients with lynch syndrome by a mechanism that might be applicable to the general population here.

This episode is hosted by Matt Yurgelun, M.D, a GI medical oncologist at the Dana-Farber Cancer Institute in Boston, MA, and features a discussion between Zsofia Stadler, M.D, a GI medical oncologist at the Memorial Sloan Kettering Cancer Center, New York, NY and Andrea Cercek, M.D, a GI medical oncologist also at the Memorial Sloan Kettering Cancer Center, New York, NY.Together they discuss "PD-1 Blockade in Mismatch Repair-Deficient, Locally Advanced Rectal Cancer" which was published in the New England Journal of Medicine and found here https://pubmed.ncbi.nlm.nih.gov/35660797/This study showed a remarkable response to immune checkpoint inhibitors in Lynch syndrome-associated rectal cancers. This exciting work is reviewed and includes insightful discussion of the design, outcomes, side effects, and future questions raised by researchers.This episode was recorded on October 25th, 2022 and reflects expert opinion at the time of the recording.  If you enjoyed this podcast, you can listen to more high quality scientific podcasts here