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Biochimica del cervello

Risky business: getting a grip on BRIP
Scritto da Journal of Medical Genetics current issue   

BRIP1 is one of several DNA damage response genes that have been implicated in both Fanconi Anaemia and hereditary breast and ovarian cancer. BRIP1 binds to the BRCT1 C-Terminus (BRCT) domain and functions in BRCA1-dependent DNA repair and cell cycle control.1 Biallelic mutations in BRIP1 cause Fanconi Anaemia type J.1 Heterozygous mutations in other Fanconi Anaemia genes such as BRCA1, BRCA2 and PALB2 are associated with an increased risk of breast cancer,2 so it is reasonable to consider BRIP1 as a candidate breast cancer susceptibility gene.

BRIP1 is currently included on most commercially available hereditary cancer gene panels, with both breast and ovarian cancers given as indication for testing. The basis for inclusion of BRIP1 as a breast cancer susceptibility gene is a single study of familial breast cancer3 (1212 cases and 2081 controls), in which the relative risk for breast...
Fonte: Journal of Medical Genetics current issue


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