Table 1.

Compilation of some well-characterized missense BRCA1-BRCT mutations and their possible deleterious effects on the structure and function of the BRCT protein.

Mutation	Gene Location	Variant Significance	Effect on BRCT	Reference
Lys1702 Thr	c.5105A>C	Unknown	Destabilize the interaction with Ser group of BACH1/CtIP proteins.	[28]
Arg1699Pro	c.5096G>C	Likely pathogenic and uncertain significance	Affect residues in the surface cleft of BRCT domain structure. Disrupt interaction with pSer990 in BACH1 protein: a 20-fold lower binding affinity.	[16]
Val 1696 Leu	c.5086G>C	Uncertain significance	Affect the interaction between BRCT domain BACH1 protein (50% reductions in BACH1 binding in rat).	[29]
Ala1708Glu Met1775Arg	c.5123C>A c.5324T>G	Pathogenic	Ablate the double-strand break repair and transcription function of BRCA1. Destabilize the BRCT fold. Inhibit BRCT interactions with histone deacetylases BACH1, and the transcriptional co-repressor CtIP.	[30]
Gly1763Val Leu1786Pro	5407 G>T 5476 T>C	Pathogenic Pathogenic	These mutations are far away from the interaction site between BRCA1 and its phosphor-ligands, which may at least partially explain why these two mutants have no deleterious effect on BRCA1 function.	[15]
Tyr 1853 Asn	c.5558A>G	Pathogenic/Likely pathogenic	Deleterious impact on protein structure and function. Impact phosphopeptide binding	[9]