Table2.

Examples of breast and ovarian cancer susceptibility genes on NGS panels

Gene	Breast and ovarian cancer
Syndrome	Clinical features	Phenotype MIM number
MIM: Mendelian inheritance in man, http://www.omim.org
BRCA1, BRCA2	Hereditary breast and ovarian cancer	Breast, ovarian, male breast, pancreatic, and prostate cancers, melanoma	604370, 612555
CDH1	Hereditary diffuse gastric cancer	Lobular breast, diffuse (signet ring) gastric, signet ring colon cancers	137215
EPCAM, MLH1, MSH2, MSH6, PMS2	Lynch syndrome	Colorectal, endometrial, ovarian, gastric, small bowel, urothelial, and pancreatic cancers, glioblastoma, sebaceous carcinoma, possible breast cancer risk	613244, 609310, 120435, 614350, 614337
PTEN	Cowden syndrome/PTEN hamartoma syndrome	Benign skin lesions (trichilemmomas, oral papillomas, acral keratosis), gastrointestinal hamartomas, breast, thyroid endometrial, colon, and renal cancers, gastrointestinal hamartomas	158350
STK11	Peutz-Jeghers syndrome	Breast cancer, gastrointestinal hamartomatous polyposis, mucosal pigmentation, colorectal, gastric, small bowel, cervical, and testicular cancers, ovarian sex cord tumors	175200
TP53	Li-Fraumeni syndrome	Childhood cancer, sarcoma, brain tumors, adrenal cortical tumors, breast cancer (early-onset), colorectal cancer, leukemia, other cancers	151623
ATM	Monoallelic-unnamed biallelic-ataxia telangiectasia	Elevated breast and pancreatic cancer risks	114480-breast cancer susceptibility, 208900-biallelic ataxia telangiectasia
CHEK2	Unnamed	Elevated breast, colon and prostate cancer risks	604373-breast and colorectal cancer, 114480-breast cancer susceptibility, 176806-prostate cancer susceptibility
PALB2	Unnamed	Elevated breast and pancreatic cancer risks, suspected male breast cancer risk	114480-breast cancer susceptibility, 612248-pancreatic cancer susceptibility