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

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

doi:10.1016/j.ajhg.2023.08.014

Cited by 4 publications

(1 citation statement)

References 101 publications

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“…Few studies have examined the feasibility of collecting liquid biopsy specimens in routine, first-line clinical settings. Pilot studies during the pandemic have shown mobile collection of blood based liquid biopsy to be beneficial and cost-effective in delivering cancer care to patients ( 194 , 195 ). In the case of milk-based liquid biopsies, there is a lack of guidelines for adequate storage and handling, appropriate collection containers, temperature control, and other factors ( 196 ).…”

Section: Accessing Liquid Biopsy For Women In the Postpartum Periodmentioning

confidence: 99%

Status of breast cancer detection in young women and potential of liquid biopsy

Stibbards-Lyle,

Malinovska,

Badawy

et al. 2024

Front. Oncol.

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Young onset breast cancer (YOBC) is an increasing demographic with unique biology, limited screening, and poor outcomes. Further, women with postpartum breast cancers (PPBCs), cancers occurring up to 10 years after childbirth, have worse outcomes than other young breast cancer patients matched for tumor stage and subtype. Early-stage detection of YOBC is critical for improving outcomes. However, most young women (under 45) do not meet current age guidelines for routine mammographic screening and are thus an underserved population. Other challenges to early detection in this population include reduced performance of standard of care mammography and reduced awareness. Women often face significant barriers in accessing health care during the postpartum period and disadvantaged communities face compounding barriers due to systemic health care inequities. Blood tests and liquid biopsies targeting early detection may provide an attractive option to help address these challenges. Test development in this area includes understanding of the unique biology involved in YOBC and in particular PPBCs that tend to be more aggressive and deadly. In this review, we will present the status of breast cancer screening and detection in young women, provide a summary of some unique biological features of YOBC, and discuss the potential for blood tests and liquid biopsy platforms to address current shortcomings in timely, equitable detection.

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Section: Accessing Liquid Biopsy For Women In the Postpartum Periodmentioning

confidence: 99%

Status of breast cancer detection in young women and potential of liquid biopsy

Stibbards-Lyle,

Malinovska,

Badawy

et al. 2024

Front. Oncol.

View full text Add to dashboard Cite

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Liquid biopsy in hereditary cancer predisposition

Hallermayr,

Keßler,

König

et al. 2024

coloproctology

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ZusammenfassungPatienten mit einem hereditären Tumorprädispositionssyndrom haben ein deutlich erhöhtes Tumorrisiko und erkranken oft schon im jungen Erwachsenenalter. Sie benötigen daher eine intensivierte Überwachung, um Tumoren bereits in einem frühen Stadium detektieren und behandeln zu können. Entsprechend werden bei Patienten mit einem Lynch-Syndrom, der häufigsten erblichen Darmkrebsprädisposition, regelmäßige Koloskopien zur Vorsorge empfohlen. Eine Liquid Biopsy ermöglicht die nicht- bzw. minimal-invasive Untersuchung von zirkulierenden Tumormarkern. Insbesondere die Analyse von zirkulierender Tumor-DNA (ctDNA) wird schon jetzt zur Therapiesteuerung von Tumorpatienten eingesetzt und ermöglicht darüber hinaus den Nachweis einer minimale Resterkrankung oder eines Rezidivs. Fortschritte im Bereich des hochsensitiven, nicht zielgerichteten Nachweises von ctDNA sind vielversprechend für die Früherkennung bei Patienten mit einer hereditären Tumorprädisposition. Hinsichtlich des Nachweises von Tumorerkrankungen im Frühstadium müssen diese Analyseverfahren jedoch noch verbessert und ihre Spezifität und Sensitivität in klinischen Studien bewertet werden. Die Herausforderung ist die sensitive Erkennung von Vorstufen, wie z. B. fortgeschrittenen Adenomen, um maligne Tumorerkrankungen vorzubeugen oder diese möglichst frühzeitig behandeln zu können.

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