Table 1 Hereditary cancer types and corresponding Genetic tests for their diagnosis
From: Genetic Counselling: the biomedical bridge between molecular diagnosis and precision treatment
Sl No | Type of cancer | Mode of inheritance | Genetic test for risk detection |
|---|---|---|---|
1 | Hereditary Non Polyposis Colorectal Cancer (HNPCC) | Autosomal Dominant | MSH2, MSH6, MLH1, PMS2 gene specific sequencing/ Clinical exome/Microsatellite Instability (MSI) test |
2 | Familial Breast & Ovarian Cancer | Autosomal Dominant | BRCA1, BRCA2, ATM, TP53, CHEK2, PTEN, CDH1, STK11, PALB2 panel screening by NGS |
3 | Neurofibromatosis type 1 | Autosomal Dominant | Confirmatory Diagnostic NF1 Gene Sequencing, Prenatal and Preimplantation Testing is also available to determine risk |
4 | Familial retinoblastoma | Autosomal Dominant | Diagnostic and risk assessing RB1gene mutation scanning, can be done at prenatal level |
5 | Multiple endocrine neoplasia type 1 (MEN1) | Autosomal Dominant | Confirmatory Diagnosis and risk analysis by MEN1 gene Sequencing |
| Â | Multiple endocrine neoplasia type 2a (MEN2a) | Autosomal Dominant | Confirmatory Diagnosis and risk analysis by RET gene Sequencing |
| Â | Multiple endocrine neoplasia type 2b (MEN2b) | Autosomal Dominant | Confirmatory Diagnosis and risk analysis by RET gene Sequencing |
6 | Familial adenomatous polyposis (FAP) | Autosomal Dominant | Diagnostic and risk assessing APC gene variation scan |
7 | Von Hippel-Lindau disease | Autosomal Dominant | Can only be diagnosed with variation and deletion detection in VHL gene |
8 | Li-Fraumeni syndrome | Autosomal Dominant | With positive family history can only be diagnosed by TP53 gene testing |
9 | Cowden Syndrome | Autosomal Dominant | Confirmatory Diagnosis by PTEN gene scan |
10 | Basal Cell Nervous Syndrome (BCNS) Gorlin Syndrome | Autosomal Dominant | Confirmatory Diagnosis by PTCH gene mutation scan and or microarray/MLPA for 9q22.3 microdeletion |
11 | Peutz-Jeghers Syndrome | Autosomal Dominant | Confirmatory diagnosis by STK11 gene scan. Risk analysis, prenatal and preimplantation testing |
12 | Wilm's Tumor | Autosomal Dominant | Risk Analysis by Whole Exome Sequencing using CNV pipeline |
13 | MUTYH-associated polyposis (MAP) | Autosomal Recessive | Diagnosis and risk analysis can be done by MUTYH gene testing |
14 | Ataxia teleangiectatisia | Autosomal Recessive | Diagnosis and risk assessment by ATM gene mutation scanning |
15 | Fanconi anemia | Autosomal Recessive | Diagnosis by chromosomal breakage test, identifying the defecting gene by clinical exome panel |