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Table 3 Summary of primary and preliminary evidence genes included in the multi-cancer panel at Invitae Genetics

From: Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

Genes with guidelines (Primary evidence)

Genes without guidelines (Preliminary evidence)

ATM, BRCA1, BRCA2, BRIP1, CDH1

ABRAXAS1, AKT1, CDC73, FANCC

CHECK2, EPCAM, MLH1, MSH2, MSH6

FANCM, MRE11, MUTYH, PIK3CA

NBN, NF1, PALB2, PMS2, PTEN

POLD1, RECQL, RINT1

RAD51C, RAD51D, STK11, TP53

SDHB, SDHD, XRC22

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287