Gene | Mutation | Age at diagnosis | Family history | Mutation type |
---|---|---|---|---|
BRCA1 | c.3359_3363delTTAAT | 48 | Sister | frameshift |
c.5470_5477delATTGGGCA | 30 | Aunt | frameshift | |
c.5136G > Aa | 29 | Mother | nonsense | |
c.5153-1G > Aa | 47 | Sister | splice-site variants | |
chr17:41246509delG | 41 | Mother | frameshift | |
chr17:41226484insC | 44 | Sister | frameshift | |
c.5470_5477delATTGGGCA | 53 | Aunt | frameshift | |
chr17:41226455delG | 49 | Mother | frameshift | |
c.2138C > G | 34 | Mother, Aunt | nonsense | |
BRCA2 | chr13:32913702DelTACT | 51 | Mother | frameshift |
chr13:32914936InsTA | 41 | Sister | frameshift | |
BAP1 | chr3:52440911InsC | 26 | Mother | frameshift |
BRIP1 | chr17:59793425C > A | 41 | Sister | splice-site variants |
MSH6 | chr2:48010546delC | 49 | Mother | frameshift |
ATM | c.2414C > T | 32 | Aunt | nonsense |