...BRCA2 (1%; 95% CI: 1%-3%), and TP53 (1%; 95% CI: 0%-3%). Patients with P/LP variants in DNA damage repair genes showed a...
...BRCA2 mutation (p.T3033fs), suggesting sensitivity to PARP inhibitors and platinum-based therapies. Based on these findi...
...BRCA2 loss (4/8), and HII ± other ImS+ features (13/30). Duration of response for patients with HII without other ImS+ f...
...BRCA2, BRIP1, MRE11A, NBN, PALB2, PARP1, POLD1, RAD50, RAD51, RAD51C, RAD51D, RAD52, RAD54L, and XRCC2) was assessed usi...
...BRCA2 (84%), CHEK2 (67%), PALB2 (63%) [p = 0.048]. Women with moderate penetrance mutations were significantly less like...
Mutations in the BRCA1 and BRCA2 genes are well-known risk factors for ovarian cancer. They are also associated with res...
...BRCA2, CDH1, PALB2, PTEN, and TP53. HerediVar offers modular annotation services and allows for collaboration in the cla...
...BRCA2). Although these data suggest that genetic mutational events occur similarly in erosive and reticular OLP, further...
...BRCA2, stabilizing RAD51 filaments. Mutations in these genes compromise HR, increasing susceptibility to various cancers...
...BRCA2) sufficient to explain her primary presentation. Subsequent exam revealed ophthalmic manifestations of von Hippel-...
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