Table 2 Summary of reported cases of HNSCC with confirmed underlying CDKN2A germline mutation

Whelan et al.[26]

IV-1

G101W

N/A

OSCC (tongue)

N/A

Sun et al.[25]

I-1

c.G159C (M53I)

N/A

OSCC

N/A

III-1

c.G159C (M53I)

N/A

OSCC

N/A

Yarbrough et al. [14]

Proband’s niece

P16(Δ96-99)

Yes

HNSCC

N/A

Della Torre et al. [24]

III-17 (2587)

P48T

N/A

OSCC

N/A

Yu et al. [15]

II-A

c.G260C (R87P)

Yes

OSCC (tongue)

N/A

II-D

c.G260C (R87P)

Yes

HNSCC

N/A

II-I

c.G260C (R87P)

Yes

HNSCC

N/A

Schneider-Stock et al. [12]

Proband

P16-Leiden

Yes

OSCC

Neg

Oldenburg et al. [11]

36 (EMC 13769)

p16-Leiden

N/A

OSCC (tongue)

N/A

48 (EMC 13769)

p16-Leiden

Yes

OSCC

Neg

Vinarsky et al. [13]

IIa

c.G302T (G101W)

Yes

OSCC (tongue)

N/A

Cabanillas et al. [23]

III-15

c.106delG

N/A

OSCC (hard palate)

N/A

III-16

c.106delG

N/A

Hypopharyngeal SCC

N/A

Fostira et al. [10]

OT-10

c.G71C

Yes

OSCC

Neg

OT-14

c.G71C

Yes

OSCC

Neg

Chan et al. [27]

Proband

Deletion CDKN2A-CDKN2B

Yes

Laryngeal SCC

Neg