Details

Autor(en) / Beteiligte

• Farncombe, Kirsten M.
• Wong, Derek
• Norman, Maia L.
• Oldfield, Leslie E.
• Sobotka, Julia A.
• Basik, Mark
• Bombard, Yvonne
• Carile, Victoria
• Dawson, Lesa
• Foulkes, William D.
• Malkin, David
• Karsan, Aly
• Parkin, Patricia
• Penney, Lynette S.
• Pollett, Aaron
• Schrader, Kasmintan A.
• Pugh, Trevor J.
• Kim, Raymond H.
• Aguilar-Mahecha, Adriana
• Aronson, Melyssa
• Baxter, Nancy N.
• Bedard, Phil
• Berman, Hal
• Bernardini, Marcus Q.
• Chan, Clarissa F.
• Cil, Tulin
• Clarke, Blaise
• Dhalla, Irfan
• Elser, Christine
• Ene, Gabrielle EV
• Ferguson, Sarah
• Genge, Laura
• Gryfe, Robert
• Jacobson, Michelle R.
• Kastner, Monika
• Kaurah, Pardeep
• Lafleur, Josiane
• Lerner-Ellis, Jordan
• Lheureux, Stephanie
• MacDonald, Shelley M.
• McCuaig, Jeanna
• Mckee, Brian
• Mittmann, Nicole
• Panchal, Seema
• Piccinin, Carolyn
• Regier, Dean
• Rezoug, Zoulikha
• Rideout, Krista
• Semotiuk, Kara
• Singh, Sara
• Siu, Lillian
• Sun, Sophie
• Thain, Emily
• Wallace, Karin
• Ward, Thomas
• Westergard, Shelley
• Whittle, Stacy
• Xu, Wei
• Yu, Celeste

Titel

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy

Ist Teil von

• American journal of human genetics, 2023-10, Vol.110 (10), p.1616-1627

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2023

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic germline genetic variant (hereditary cancer syndrome—HCS). These individuals are burdened with lifelong surveillance monitoring organs for a wide spectrum of cancers. This is associated with substantial uncertainty and anxiety in the time between screening tests and while the individuals are awaiting results. Cell-free DNA (cfDNA) sequencing has recently shown potential as a non-invasive strategy for monitoring cancer. There is an opportunity for high-yield cancer early detection in HCS. To assess clinical validity of cfDNA in individuals with HCS, representatives from eight genetics centers from across Canada founded the CHARM (cfDNA in Hereditary and High-Risk Malignancies) Consortium in 2017. In this perspective, we discuss operationalization of this consortium and early data emerging from the most common and well-characterized HCSs: hereditary breast and ovarian cancer, Lynch syndrome, Li-Fraumeni syndrome, and Neurofibromatosis type 1. We identify opportunities for the incorporation of cfDNA sequencing into surveillance protocols; these opportunities are backed by examples of earlier cancer detection efficacy in HCSs from the CHARM Consortium. We seek to establish a paradigm shift in early cancer surveillance in individuals with HCSs, away from highly centralized, regimented medical screening visits and toward more accessible, frequent, and proactive care for these high-risk individuals. This work by the CHARM consortium in Canada describes the emerging potential of liquid biopsy in early cancer detection for individuals with hereditary cancer syndrome. There is an opportunity to incorporate cell-free DNA sequencing into surveillance protocols, leading to more accessible, frequent, and proactive care.