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A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.

Human molecular genetics - 18 May 2023

Radulovic Ivana, Schündeln Michael M, Müller Lisa, Ptok Johannes, Honisch Ellen, Niederacher Dieter, Wiek Constanze, Scheckenbach Kathrin, Leblanc Thierry, Larcher Lise, Soulier Jean, Reinhardt Dirk, Schaal Heiner, Andreassen Paul R, Hanenberg Helmut

Abstract excerpt

Biallelic germline mutations in BRCA2 occur in the Fanconi anemia (FA)-D1 subtype of the rare pediatric disorder, FA, characterized clinically by severe congenital abnormalities and a very high propensity to develop malignancies early in life. Clinical and genetic data from 96 FA-D1 patients with biallelic BRCA2 mutations were collected and used to develop a new cancer risk prediction score system based on the...

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PMID: 36721989
DOI: 10.1093/hmg/ddad017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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