BRCA2

(redirected from FANCD1)

BRCA2

A gene on chromosome 13q12.3 that encodes a protein which, like BRCA1, is involved in maintenance of genome stability, especially the homologous recombination pathway for double-stranded DNA repair; like BRCA1, it carries a marked increase in the lifetime risk of breast and ovarian cancer.

BRCA2

Molecular oncology A tumor suppressor gene linked to breast and ovarian CA See Tumor suppressor gene.
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[11,17] The more recent discovery that BRCA1 (FANCU) and BRCA2 (FANCD1), implicated in the causation of hereditary breast and ovarian cancer syndrome (HBOC), are also part of the FA pathway highlights the interplay between abnormal DNA repair mechanisms and the evolution of cancer.
Fanconi anaemia in South Africa: Past, present and future
[20,24] Although the VACTERL/H phenotype appears to be more often associated with mutations in FANCD1 (33%), E (40%) and F (30%), more recent work by Alter and Giri [20] suggests that the co-occurrence of this phenotype with FA is under-recognised.
Fanconi anaemia in South African patients with Afrikaner ancestry
That is the case for patients with biallelic mutations in FANCD1 [47, 48], as well as those who bear mutations in FANCC for whom an SDS for height of -3.84 has been found [41].
DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation

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