Details

Autor(en) / Beteiligte

• Fiala, Elise M
• Jayakumaran, Gowtham
• Mauguen, Audrey
• Kennedy, Jennifer A
• Bouvier, Nancy
• Kemel, Yelena
• Fleischut, Megan Harlan
• Maio, Anna
• Salo-Mullen, Erin E
• Sheehan, Margaret
• Arnold, Angela G
• Latham, Alicia
• Carlo, Maria I
• Cadoo, Karen
• Murkherjee, Semanti
• Slotkin, Emily K
• Trippett, Tanya
• Glade Bender, Julia
• Meyers, Paul A
• Wexler, Leonard
• Dela Cruz, Filemon S
• Cheung, Nai-Kong
• Basu, Ellen
• Kentsis, Alex
• Ortiz, Michael
• Francis, Jasmine H
• Dunkel, Ira J
• Khakoo, Yasmin
• Gilheeney, Stephen
• Farouk Sait, Sameer
• Forlenza, Christopher J
• Sulis, Maria
• Karajannis, Matthias
• Modak, Shakeel
• Gerstle, Justin T
• Heaton, Todd E
• Roberts, Stephen
• Yang, Ciyu
• Jairam, Sowmya
• Vijai, Joseph
• Topka, Sabine
• Friedman, Danielle N
• Stadler, Zsofia K
• Robson, Mark
• Berger, Michael F
• Schultz, Nikolaus
• Ladanyi, Marc
• O'Reilly, Richard J
• Abramson, David H
• Ceyhan-Birsoy, Ozge
• Zhang, Liying
• Mandelker, Diana
• Shukla, Neerav N
• Kung, Andrew L
• Offit, Kenneth
• Zehir, Ahmet
• Walsh, Michael F

Titel

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

Ist Teil von

• Nature cancer, 2021-03, Vol.2, p.357

Ort / Verlag

England

Erscheinungsjahr

2021

Quelle

MEDLINE

Beschreibungen/Notizen

• The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 solid tumor patients who underwent prospective matched tumor-normal DNA sequencing and downstream clinical use (clinicaltrials.gov NCT01775072). Germline pathogenic and likely pathogenic (P/LP) variants were reported. One or more P/LP variants were found in 18% (138/751) of individuals when including variants in low, moderate, and high penetrance dominant or recessive genes, or 13% (99/751) in moderate and high penetrance dominant genes. 34% of high or moderate penetrance variants were unexpected based on the patient's diagnosis and previous history. 76% of patients with positive results completed a clinical genetics visit, and 21% had at least one relative undergo cascade testing as a result of this testing. Clinical actionability additionally included screening, risk reduction in relatives, reproductive use, and use of targeted therapies. Germline testing should be considered for all children with cancer.