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Table 3 Cancer history among probands that carried MITF p.E318K variant and their relatives

From: Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

Cancer type

Proband

FDR

Paternal SDR

Maternal SDR

Paternal TDR

Maternal TDR

Breast

4

4

2

1

1

1

Prostate

-

4

2

2

-

-

Colon

1

2

2

5

-

3

Stomach

-

4

1

1

-

-

Skin (non-melanoma)

-

2

2

-

-

-

Melanoma

1

-

-

-

-

-

Pancreas

-

-

-

3

-

-

Esophagus

-

1

1

-

1

-

Ovary

-

2

-

-

-

-

Oviduct

1

-

-

-

-

-

Cervix

1

-

-

-

-

-

Testis

-

-

1

-

1

-

Bladder

-

-

1

-

-

-

Lung

-

-

1

-

-

-

Head and Neck

-

-

-

1

-

1

Leukemia

-

-

-

1

-

-

NOS

-

-

1

3

-

-

  1. FDR First-degree relatives, SDR second-degree relatives, TDR third-degree relatives, NOS Not otherwise specified