Table 1 Genotype-dependent categorisation of RASopathies identified in 25 genetic laboratories in Germany in 2002–2012

From: Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

   

Cases of cancer a

   

Syndrome

Mutated gene ( n)

n

Observed

Expected

PY

SIR, 95% CI

All RASopathies combined

735

12

1.14

7489.9

10.5 (5.4–18.3)

NS, all subtypes combined

632

8

0.99

6535.6

8.1 (3.5–16.0)

Classic NS

PTPN11 (437), NRAS (3), SOS1 (81), RAF1 (50)

571

7

0.89

5900.6

7.9 (3.2–16.2)

NSLAH

SHOC2 (17)

17

0

0.02

138.9

0.0 (0.0–159.0)

NSML

PTPN11 (44)

44

1

0.08

496.2

13.1 (0.3–72.9)

CS

HRAS (32)

32

2

0.05

278.2

42.4 (5.1–153.2)

CFCS

BRAF (41), MEK1 (8), MEK2 (4)

53

0

0.08

495.9

0.0 (0.0–45.3)

KRASb

KRAS (17)

17

2

0.03

175.2

75.8 (9.2–273.7)

CBLc

CBL (1)

1

0

−

−

−

  1. Abbreviations: CS=Costello syndrome; CFCS=cardio-facio-cutaneous syndrome ; CI=confidence interval; KRAS=RASopathy with a germline mutation of KRAS; NS=Noonan Syndrome; NSLAH=NS-like disorder with loose anagen hair; NSML=NS with multiple lentigines; PY=person-years; SIR=standardised incidence ratio.
  2. aData from the German Childhood Cancer Registry (see Materials and Methods for details).
  3. bRASopathy with a germline mutation of KRAS.
  4. cRASopathy with a germline mutation of CBL.
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