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. 2021 Oct 16;22:500. doi: 10.1186/s12859-021-04421-z

Table 5.

The output of demo system for a well-known pair of human protein and HPO term, i.e. BRCA2 and Breast cancer

Sentence PubMed ID Year Curator
“BRCA2, also known as FANCD1, is the most known gene that causes FA when both alleles are mutated and is associated with breast cancer risk when one allele is disrupted” 24765528 2014 Related
“Even more prominently, inactivation of the distal FA pathway through mutations in the BRCA2 (FANCD1) gene has been reported in breast cancer [14] (familial cases [15-17]), pancreatic cancer [18, 19] and ovarian cancer [20], among others” 26843614 2016 Related
“Our results rule out a major role of FANCI, FANCL and FANCM in familial breast cancer susceptibility, suggesting that among the 13 known FA genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition” 19737859 2009 Related
“In addition, FANCD1 gene has been shown to be identical to BRCA2, one of the two breast cancer susceptibility genes” 16115458 2005 Related
“Specifically, mutations in FANCD1 (BRCA2) carry an 82% lifetime risk of breast cancer, and 23% risk of ovarian cancer [24, 25]” 28157704 2017 Related