Evidence item

The primary article directly reports the 181-child cohort and nine patients with pathogenic germline alterations under the three-pronged diagnostic strategy. DIRECT_TEXT

Authenticity UNVERIFIED · extraction UNVERIFIED · independence group none (unreviewed) · created seq 21495

Source: Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort · locator {} · excerpt hash sha256:f5a45ebb55750318c60d80a9995dd0e035ef22216d2d2656b6c2c3d17f20a9e5

Exact excerpt

We perform a nationwide, prospective, population-based study of 181 children with acute leukemia to assess diagnostic yield and clinical utility of a uniformly applied three-pronged strategy, including systematic phenotyping, germline WGS-based 189-gene panel and tumor sequencing of positive cases. Trio-WGS is performed in 11 high-suspicion families. Nine patients have pathogenic germline alterations.

Linked claims

Claim	Direction	Relevance	Steps	Counted
14af8636	SUPPORT	DIRECT	0	yes

Audits

None.