Table 1 Foundation Medicine Reported & ESMO/ACMG Recommended Reported Cancer Susceptibility Genes (CSG).

From: Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing

Cancer Susceptibility Gene (CSG)

Associated Disease/Phenotype

Foundation Medicine

ESMO PMWG (Mandelker et al. 2019)

ACMG (Miller et al. 2021)

Exclusion Reason(s)

  

Germline Banner

Report

   

APC

Familial Adenomatous Polyposis (FAP)

 

X

X2

X

FMI Banner: C2

ATM

Ataxia-Telangiectasia (AT); Breast, Pancreatic Cancer Susceptibility

X

X

  

ESMO: P, A

ACMG: P, A

BAP1

Tumor Predisposition Syndrome 1

X

X

X1

 

ACMG: A

BMPR1A

Juvenile Polyposis Syndrome (JPS)

   

X

FMI Banner/Report: NC

ESMO: C

BRCA1

Hereditary Breast & Ovarian Cancer

X

X

X

X

 

BRCA2

Hereditary Breast & Ovarian Cancer

X

X

X

X

 

BRIP1

Ovarian, Breast Cancer Susceptibility

X

X

X

 

ACMG: P, A

CHEK2

Breast, Colorectal, Prostate Cancer Susceptibility

X

X

  

ESMO: P

ACMG: P

FH

Hereditary Leiomyomatosis & Renal Cell Cancer

X

X

X1

 

ACMG: NP

FLCN

Birt-Hogg-Dube Syndrome (BHD)

X

X

X1

 

ACMG: NP

MAX

Hereditary Paraganglioma-Pheochromocytoma Syndrome

   

X

FMI Banner/Report: NC

ESMO: NP

MEN1

Multiple Endocrine Neoplasia Type I

 

X

 

X

FMI Banner: C

ESMO: C

MLH1

Lynch Syndrome

X

X

X

X

 

MSH2

Lynch Syndrome

X

X

X

X

 

MSH6

Lynch Syndrome

X

X

X

X

 

MUTYH

MUTYH-Associated Polyposis (MAP)

X

X

X

X

 

NF1

Neurofibromatosis Type 1

 

X

X1,2

 

FMI Banner: C2

ACMG: NP

NF2

Neurofibromatosis Type 2

 

X

 

X

FMI Banner: C

ESMO: C

PALB2

Breast, Pancreatic Cancer Susceptibility

X

X

X

X

 

PMS2

Lynch Syndrome

X

X

X

X

 

POLE

Colorectal Cancer Susceptibility

X

X

X1

 

ACMG: A

PTEN

PTEN Hamartoma Tumor Syndrome

 

X

 

X

FMI Banner: C

ESMO: C

RAD51C

Breast, Ovarian Cancer Susceptibility

X

X

X

 

ACMG: P, A

RAD51D

Breast/Ovarian Cancer Susceptibility

X

X

X

 

ACMG: P, A

RB1

Retinoblastoma

 

X

X2

X

FMI Banner: C2

RET

Familial Medullary Thyroid Cancer; Multiple Endocrine Neoplasia Type 2A/2B

X

X

X

X

 

SDHA

Hereditary Paraganglioma-Pheochromocytoma Syndrome

X

X

X

 

ACMG: T

SDHAF2

Hereditary Paraganglioma-Pheochromocytoma Syndrome

  

X

X

FMI Banner/Report: NC

SDHB

Hereditary Paraganglioma-Pheochromocytoma Syndrome; GIST

X

X

X

X

 

SDHC

Hereditary Paraganglioma-Pheochromocytoma Syndrome; GIST

X

X

X

X

 

SDHD

Hereditary Paraganglioma-Pheochromocytoma Syndrome

X

X

X

X

 

SMAD4

Juvenile Polyposis Syndrome (JPS)

 

X

 

X

FMI Banner: C

ESMO: C

STK11

Peutz-Jeghers Syndrome

 

X

 

X

FMI Banner: C

ESMO: C

TGFBR2

Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

 

X

  

FMI Banner: C

ESMO: C

ACMG: NP

TMEM127

Hereditary Paraganglioma-Pheochromocytoma Syndrome

   

X

FMI Banner/Report: NC

ESMO: C

TP53

Li-Fraumeni Syndrome

 

X

X1,2

X

FMI Banner: C1,2

TSC1

Tuberous Sclerosis Complex

 

X

 

X

FMI Banner: C

ESMO: C

TSC2

Tuberous Sclerosis Complex

X

X

X

X

 

VHL

von Hippel-Lindau Syndrome

X

X

X1

X

 

WT1

WT1-Related Wilms Tumor

 

X

 

X

FMI Banner: C

ESMO: C

  1. 1Tumor Type Restricted 2Age Restricted To < 30 Years Exclusion Reasons Key: A Unclear Actionability/Lack Of Consensus Regarding Clinical Management, C < 10% Germline Conversion Rate (GCR), P Low Penetrance, NC Not Covered On FMI Assays, NP No Reason Provided, T Technical Concerns Regarding Detection. ACMG American College Of Medical Genetics, FMI Foundation Medicine, Inc., ESMO-PMWG European Society Of Medical Oncology Precision Medicine Working Group.
Back to article page