We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Reply to Evans and Woodward.
- Authors
Kratz, Christian P; Smirnov, Dmitrii; Autry, Robert; Jäger, Natalie; Waszak, Sebastian M; Großhennig, Anika; Berutti, Riccardo; Wendorff, Mareike; Hainaut, Pierre; Pfister, Stefan M; Prokisch, Holger; Ripperger, Tim; Malkin, David
- Abstract
Prospective studies are needed to independently confirm these findings and to define the pediatric cancer spectra, tumor risks, and somatic mutation landscapes associated with PVs in these genes. We thank Drs Evans and Woodward for their correspondence ([1]) in which the following points related to our publication entitled "Heterozygous I BRCA1 i and I BRCA2 i and mismatch repair gene pathogenic variants in children and adolescents with cancer" are raised. We recommend a similar procedure in children with cancer who are found to harbor a heterozygous germline PV in a MMR gene to rule out constitutional MMR deficiency because of biallelic PVs in one of the MMR genes.
- Subjects
DNA copy number variations; GENETIC variation
- Publication
JNCI: Journal of the National Cancer Institute, 2023, Vol 115, Issue 2, p231
- ISSN
0027-8874
- Publication type
Article
- DOI
10.1093/jnci/djac224