Nonserous cases with homologous recombination mutations
Histology | ID | Grade | Germline homologous recombination mutationa | Somatic homologous recombination mutation(s)a | Somatic PTEN mutation(s)a |
---|---|---|---|---|---|
Clear cell | UW400 | 3 | CHEK2 p.S428F | ||
UWf14 | 3 | BRCA2 p.S368X | |||
UW420 | 3 | CHEK2 del exons 1–7 | |||
UW408 | 3 | ATM c.5441delT | PTEN c.678delC | ||
UW358 | 3 | BRCA1 1135insA | PTEN c.968insA | ||
BRIP1 c.3260insA | |||||
MRE11A c.1196insTT | |||||
Endometrioid | UW383 | 1 | BRIP1 p.R798X | PTEN c.955delACTT | |
UW381 | 1 | ATM c.3284(+1)G>C splice | |||
UW131 | 2 | BRCA2 p.R2494X | |||
UW341 | 2 | BRCA1 dup exons 21–24 | |||
UW165 | 3 | BRCA1 187delAG | |||
UWf2 | 3 | BRCA2 3034delAAAC | |||
UW132 | 3 | RAD51D c.580delA | PTEN c.389delG | ||
Carcinosarcoma | UWf77 | 3 | BRCA1 2080delA | ||
UW435 | 3 | FAM175A c.1106insG | |||
UW407 | 3 | RAD51C c.706(−2) A>G splice | |||
UW124 | 3 | BRCA1 3481delA | |||
Malignant Brenner | UW96 | 3 | FAM175A c.1106insG |
↵aBRCA1 and BRCA2 mutations were annotated using BIC designation (http://research.nhgri.nih.gov/bic/; reference sequences: BRCA1 GenBank U14680; BRCA2 GenBank U43746); all other mutations were annotated using HGVS nomenclature.