Hereditary Cancer Next Generation Sequencing

Required documents for Hereditary Cancer Testing:

Helpful documents for Hereditary Cancer Testing:

In relation to hereditary cancer, the purpose of next generation sequencing (NGS) DNA testing is to determine if a patient carries any mutations that lead to an increased risk of developing cancer.

Acceptable sample types include whole blood samples and buccal (cheek) swabs. Various panels are available, which screen up to 99 genes for cancer susceptibility. Genes included in these panels may be associated with several different types of cancer and with varying levels of cancer risk.

All genes in this panel have been implicated in cancer predisposition and are associated with increased lifetime cancer risk(s), although a patient’s overall risk may differ depending on the gene and the mechanism of the associated condition. If a patient is found to carry a mutation/variant in any of the genes analyzed, this may also have implications for the patient’s family members, which should be discussed with the healthcare provider.

Possible Results

Positive: A mutation has been identified in a gene or genes associated with increased cancer susceptibility. This may indicate that the patient is at an increased risk of developing cancer, with the specific type of cancer depending on the genes involved. The healthcare provider will make cancer screening and medical management recommendations based on what is known about the gene in which the mutation was found.

Negative: No clinically significant mutations have been identified in the genes that were tested. This indicates that the patient is not at increased risk for inherited cancers linked to those genes. Depending on the patient's personal and family history of cancer, they may still be at risk for developing other cancers in their lifetime. The patient’s healthcare provider will make cancer screening and medical management recommendations based on the patient’s personal and family history.

Variant: A variant or mutation has been identified in one or more genes; however, there is not enough information currently available about that variant or mutation to determine whether it is associated with an increased risk of cancer. The patient’s healthcare provider will make cancer screening and medical management recommendations based on the patient’s personal and family history.

Breast Cancer Panel: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, FANCM, MUTYH, NF1, PALB2, PTEN, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53

Breast and Gynecological Panel: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, EZH2, FANCC, FANCM, FH, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PRKAR1A, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53

Colorectal and Gastric Cancer Panel: APC, ATM, BLM, BMPR1A, BUB1B, BRCA1, BRCA2, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEP57, CHEK2, EPCAM, FANCC, FLCN, GNAS, GPC, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NSD1, PALB2, PMS2, POLD1, POLE, PTEN, RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, VHL

Renal/Urinary Tract Cancer Panel: ATM, BAP1, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDKN1C, CEP57, CHEK2, DICER1, DIS3L2, EPCAM, FANCA, FH, FLCN, GPC3, HRAS, MET, MLH1, MSH2, MSH6, NBN, NSD1, PALB2, PMS2, PTEN, RAD51D, SDHA, SDHB, SDHC, SDHD, SMARCB1, TMEM127, TP53, TSC1, TSC2, VHL, WT1

Common Hereditary Cancer Panel: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL

Nervous System and Endocrine Cancer Panel: AIP, ALK, APC, BAP1, CDC73, CDKN1B, CDKN1C, CHEK2, DICER1, EPCAM, EZH2, FH, GNAS, GPC3, HRAS, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, NSD1, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCB1, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN

Full Hereditary Cancer Panel: All genes mentioned are targeted.