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Table 1 Pathogenic gene mutations in 15 patients with 17 cancers

From: MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer

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

  1. aIndicates that the patient had two tumors