Skip to main content

Table 3 Types of cancers in close relatives of patients with hereditary breast cancer in relation to the gene-specific VUS

From: Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer

Gene

Variant ID

Cancers in close relatives

First-degree

Second-degree

Third-degree

APC

c.1564 A > G

Esophageal

Melanoma

Thyroid (2)

  

ATM

c.7502 A > G

c.7502 A > G

 

Colorectal

Oral

Breast

Breast

Colorectal

Leukemia

BRCA1

c.3392 A > G

Breast

Leukemia

Oral

Cervical

 

BRCA2

c.784G > A

c.2488 A > G

c.6231G > C

c.521G > A

c.8417 C > T

Breast

Ovarian

N/A

N/A

Breast (3)

Leukemia

Endometrial

  

BRIP1

c.3103 C > T

 

Colorectal

 

CDKN2A

c.377 A > G

Breast

Breast

 

CHEK2

c.60G > T

c.1501G > A

Breast (3)

Breast

  

FANCI

c.3179T > C

Breast

  

MET

c.840G > T

Breast (2)

Breast

Breast

STK11

c.355 A > G

Breast (2)

colon

  

NF2

c.1522G > A

 

Testicular

 
  1. The number of individuals is stated within brackets if more than one family member is affected
  2. N/A- Data not available