Skip to main content

Table 2 Clinical data of patients with identified loss-of-function variants

From: Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

TruncatingVariant

Other variants identified

Histology

Subtype

Grade

Other cancers in the patient

Metastasis

BRCA1

c.5266dupC

epithelial

serous

Gx

epithelial

clear cell

G2

epithelial

serous

G2

epithelial

serous

G2

omental metastases

BRCA2

c.4043G>C

epithelial

squamous cell

G3

cervical cancer; breast cancer

liver metastases

epithelial

serous

G4

breast cancer

epithelial

serous

Gx

vaginal metastases

BRCA1

c.3700_3704delGTAAA

ATM c.2149C>T

epithelial

serous

G4

omental and mesenteric metastases

BRCA1

c.3143delG

PALB2

c.1486G>C

epithelial

serous

G2

epithelial

serous

G2

breast cancer

lymph node metastases

BRCA1

c.4035delA

epithelial

serous

G3

omental metastases

BRCA1

c.181 T > G

epithelial

mucinous

G2/G3

omental metastases

BRCA2

c.3751dupA

epithelial

serous

G2

CHEK2

c.1100delC

ATM

c.6028A>G

epithelial

serous

Gx

NBN

c.429G > A

epithelial

serous

Gx

MSH6

c.1299 T > G

BRCA2

c.5624A>C; MUTYH c.985G>A

epithelial

mixed

G2/G3

endometrial cancer