Table 2.

Select tumors that warrant genetics evaluation

Tumor	Highly associated syndromes	Gene	Commonly associated tumor/cancer risks
Adrenocortical carcinoma	Li–Fraumeni syndrome	TP53	Breast, sarcoma, brain tumor, adrenocortical carcinoma, many cancer types
Anaplastic rhabdomyosarcoma	Li–Fraumeni syndrome	TP53	See above
Cerebellar hemangioblastoma	von Hippel–Lindau syndrome	VHL	Endolymphatic sac tumor, pancreatic islet cell carcinoma, hemangioblastoma of CNS or retina, renal cell carcinoma, cysts in the liver, kidney, pancreas, or spleen
Choroid plexus carcinoma	Li–Fraumeni syndrome	TP53	See above
Diffuse gastric cancer	Hereditary diffuse gastric cancer	CDH1	Lobular breast cancer, diffuse gastric cancer
Hypodiploid ALL	Li–Fraumeni syndrome	TP53	See above
Medullary thyroid cancer	MEN2	RET	Medullary thyroid cancer, pheochromocytoma, hyperparathyroidism
Medulloblastoma	Familial adenomatous polyposis	APC	Colon, colon polyps, ampullary, small bowel, small bowel polyps, thyroid, desmoid
	Gorlin syndrome	SUFU, PTCH1	Basal cell carcinoma, ovarian fibroma, jaw keratocyst
	Hereditary breast/ovarian cancer	BRCA2, PALB2	Breast, ovarian, pancreatic, prostate, melanoma
	Li–Fraumeni syndrome	TP53	See above
Ovarian cancer	Hereditary breast/ovarian cancer	BRCA1, BRCA2	Breast, ovarian, pancreatic, prostate
	Lynch syndrome	MLH1, MSH2, MSH6, PMS2, EPCAM	Colon, endometrial, colon polyps, small bowel, urinary tract, ovarian
	Epithelial ovarian cancer	BRIP1, RAD51C, RAD51D	Possibly breast
Ovarian Sertoli–Leydig cell tumor	DICER1 syndrome	DICER1	Pleuropulmonary blastoma, Sertoli–Leydig cell tumor of the ovary, cystic nephroma, thyroid nodules/cancer
Pancreatic cancer	Familial atypical multiple mole melanoma syndrome	CDKN2A	Melanoma, pancreatic, dysplastic nevi
	Hereditary breast/ovarian cancer	BRCA1, BRCA2, PALB2	Breast, ovarian, pancreatic, prostate, melanoma
	Lynch syndrome	MLH1, MSH2, MSH6, PMS2, EPCAM	Colon, endometrial, colon polyps, small bowel, urinary tract, ovarian
	Peutz–Jeghers syndrome	STK11	Breast, gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, colon, lung, small bowel, stomach, cervix, ovarian, testicular
Paraganglioma/pheochromocytoma	Hereditary paraganglioma/ pheochromocytoma syndrome	SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127	Paraganglioma, pheochromocytoma, GIST, renal cell cancer, papillary thyroid cancer
	MEN2	RET
	von Hippel–Lindau syndrome	VHL	Endolymphatic sac tumor, pancreatic islet cell carcinoma, hemangioblastoma of CNS or retina, renal cell carcinoma, cysts in the liver, kidney, pancreas, or spleen
Pleuropulmonary blastoma	DICER1 syndrome	DICER1	See above
Retinoblastoma	Hereditary retinoblastoma	RB1	Melanoma, sarcoma, pineoblastoma
Rhabdoid tumor, atypical teratoid/rhabdoid tumor	Rhabdoid tumor predisposition syndrome	SMARCB1, SMARCA4	Schwannoma, meningioma

(CNS) Central nervous system, (GIST) gastrointestinal stromal tumor.