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Table 2 Panels for hereditary tumor syndromes

From: Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

Panel

Lab

List of genes

Cohort

Hereditary breast and ovarian cancer

BRCA standard

Genetica, KSA, HUG or Valais

BRCA1 and BRCA2

BRCA1/2 = 1

BRCA plus Mamma/Breast cancer panel

Genetica, KSA

BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53

BRCA plus ≤ 10 genes = 2

BRCA plus Ovar/Ovarian cancer panel

Genetica, KSA

BRCA1, BRCA2, BRIP1, EPCAM (3’UTR), MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D

2

Customized

 

BRCA plus ≤ 10

2

BRCA plus Lynch

Genetica, KSA

BRCA1, BRCA2, EPCAM (3'UTR), MLH1, MSH2, MSH6, PMS2

2

BRCA plus MMR genes

KSA

BRCA1, BRCA2 MLH1, MSH2, MSH6 and PMS2

2

BRCA plus HBOC

Genetica

BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, EPCAM (3'UTR), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

BRCA plus > 10 genes = 3

Extended breast- and ovarian cancer panel

KSA

BRCA1, BRCA2, ATM, BARD1, BLM, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2

3

Customized

 

BRCA plus > 10 genes

3

Lynch syndrome

MMR genes

Basel

MLH1, MSH2, MSH6 and PMS2

4