Empower gene table with cancer risk recommendations

Select the Empower gene panel of interest from the “Filter by Panel” dropdown menu, then hit Apply to view the included genes (listed in alphabetical order). Search for a particular gene of interest in the “Search by Gene” box. Hit the Reset button between new searches.

The information shown is based on the latest publication data available, and a PubMed identification (PMID) number is listed for each risk association. We will update this table regularly as new data becomes available.

For desktop viewing: hover your mouse over a colored dot to view how a gene mutation confers risk for each of 12+ hereditary cancer types within a pop-up box. To scroll for more information within a pop-up box, pause your mouse on the colored dot, then shift horizontally over to the pop-up box.

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Gene	Breast	Ovarian	Endometrial	Colorectal	Melanoma	Pancreatic	Gastric	Prostate	Renal	Other	Panels	Resources
AIP				Increased in mutation carriers who also have a diagnosis of acromegaly						Pituitary adenoma: Increased PMID: 23371967, 22720333	Comprehensive (81 genes)	PMID: 22720333, 23371967
ALK										Neuroblastic tumor: Increased PMID: 28674118, 20301782	Comprehensive (81 genes)	PMID: 28674118, 20301782
APC				Without removal of colon for FAP: up to 100% Without removal of colon for AFAP: up to 70% Rectal cancer risk after removal of colon for FAP: 10-30%			0.1-7.1%			Thyroid: <2% Duodenal: 4-12% PMID: 28185118, 26819281 Brain/CNS: Increased PMID: 17238184, 18612695 Hepatoblastoma: 1-2% PMID: 16317745, 18612695, NCCN CRC	Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 24213224, 28185118, 26819281
APC (p.I1307K)				5-10%							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
APC GAPPS				Unknown (insufficient data)			12-25%				Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023
ATM	Female: 20-30%* *Carriers of the c.7271T>G variant have a higher risk for breast cancer, estimated to be as high as 69% by age 70	2-3%		Possibly increased		~5-10%	Possibly increased	Possibly increased			GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024 PMID 15928302, 26662178
AXIN2				Unknown; not enough data to define Increased risk for polyposis (many polyps)							Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 21416598 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
BAP1					Cutaneous melanoma (skin): ~15%; uveal melanoma (eye): ~30%				9-10%	Malignant mesothelioma: 22% PMID: 26096145	Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 26096145, 28793149, 27748099
BARD1	Female: 17-30%										Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024
BMPR1A				40-50%			Up to 21% if multiple polyps present			Small bowel: Rare, currently undefined PMID: 9429144	Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
BRCA1	Female: >60% Male: 0.2- 1.2%	39-58%	Possibly slightly increased (limited data)					7-26%			BRCA1 and BRCA2 (2 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 PMID 20301425
BRCA2	Female: >60% Male: 1.8- 7.1%	13-29%			Increased	5-10%		19-61%			BRCA1 and BRCA2 (2 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 PMID 20301425
BRIP1	Female: Possibly increased (not enough data to define risk)	5-15%									GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023
CDC73			Non-cancerous/cancerous uterine tumors combined: > 50%						Renal tumors: ~13-15%	Hyperparathyroidism: up to 87% PMID: 25959515 Parathyroid cancer: ~15-23% PMID: 25959515, 31929790 Jaw tumors: ~30% PMID 31929790	Comprehensive (81 genes)	PMID: 31929790, 26450137
CDH1	Female: 39-52% Male: Unknown			Female: Possibly increased Male: Possibly increased			Female: 83% Male: 67%				GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID 25979631 Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2021
CDK4					Increased						Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 26892650
CDKN1B										Hyperparathyroidism & parathyroid tumors: ~80% Pituitary adenoma: ~37% Neuroendocrine tumor ~37% PMID: 28824003	Comprehensive (81 genes)	PMID: 28824003, 30990521
CDKN1C									Wilms tumor: 1.4%	Hepatoblastoma: Increased Adrenal cortical carcinoma: Increased Neuroblastoma: Increased Rhabdomyosarcoma: Increased PMID: 12138139	Comprehensive (81 genes)	PMID: 20301568, 16010495, 29377879
CDKN2A (p16INK4a)					28-76%	>15%					Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 16234564, 12072543, 26892650, 24935963, NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023
CEBPA										Acute myeloid leukemia: Significantly increased PMID: 26162409	Comprehensive (81 genes)	PMID: 26162409, 20963938
CHEK2	Female: 20-40%			5-10%				Possibly increased			GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023
CHEK2 (p.I157T)	Female: <20%			5-10%				Possibly increased			GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 22799331
CYLD										Cylindroma, spiradenoma, or trichoepithelioma: Significantly increased PMID: 34744449 Salivary gland cancer: Increased Non-melanoma skin cancer: Increased PMID: 34744449, 32298062	Comprehensive (81 genes)	PMID: 34744449, 32298062
DDX41										Myeloid and lymphoid blood cancers: Increased PMID: 34723452, 34349893	Comprehensive (81 genes)	PMID: 34723452, 34349893
DICER1		Sex cord stromal tumors: Increased; onset in childhood							Benign kidney tumors: Increased; onset in childhood	Thyroid: Increased; onset in adulthood PMID: 29343557, 24761742 Pleuropulmonary blastoma: Increased; onset in childhood PMID: 29343557, 24761742	Comprehensive (81 genes)	PMID: 24761742, 29343557
EGFR (T790M)										Lung: Increased, up to 31% PMID: 24736066	Comprehensive (81 genes)	PMID: 24736066, 34164592
EPCAM		8-38%	21-57%	33-52%			0.2-9%	3.9- 23.8%	2.2- 28%	Biliary tract: 0.02%-1.7% PMID 21642682, 28754778 Brain/CNS: 2.5-7.7% PMID 28754778, 31337882, 18398828 Urothelial: 2.2-28% PMID 23091106, 21642682, 26657901, 31337882, 26385421, 18398828 Bladder: 4.4-12.8% PMID 21642682, 26657901, 31337882, 26385421 Small bowel: 1.1-10% PMID 21642682, 28754778, 31337882, 18398828	Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647
EXT1										Osteochondromas: ~96% Chondrosarcoma: 2-5% PMID: 20301413, 8027127, 22258776, 25582066	Comprehensive (81 genes)	PMID: 20301413, 8027127, 22258776, 25582066
EXT2										Osteochondromas: ~96% Chondrosarcoma: 2-5% PMID: 20301413, 8027127, 22258776, 25582066	Comprehensive (81 genes)	PMID: 20301413, 8027127, 22258776, 25582066
FH									10-19% (most commonly papillary RCC)	Paraganglioma and pheochromocytoma: increased in association with particular variants PMID: 12772087, 28300276	Comprehensive (81 genes)	PMID: 12772087, 28300276, 25012257, 20301430
FLCN				Possibly increased	Possibly increased				19-41% (includes multiple tumor types: chromophobe, clear cell, hybrid oncocytic, and papillary renal cancer)		Comprehensive (81 genes)	PMID: 20301695, 11927500, 22146830, 30586397, 30845233, 18234728, 26334087, 20522427, 20392993, 20413710, 19959076
GATA2										Myelodysplastic syndrome/acute myeloid leukemia: Increased \| PMID: 22691122	Comprehensive (81 genes)	PMID: 22691122, 25397911
GREM1				11-20% Increased risk for mixed polyposis (many polyps of different types)							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 22561515
HOXB13 (G84E)								33-60%			Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 26517352, 22841674, 25595936, 23457453, 29236593
KIT										Gastrointestinal stromal tumor (GIST): Increased PMID: 27437068	Comprehensive (81 genes)	PMID: 27437068
LZTR1 biallelic										Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased PMID 29517885	Comprehensive (81 genes)	PMID: 29517885, 28620004, 27921248
LZTR1 monoallelic										Peripheral nerve schwannoma; spinal schwannoma; unilateral vestibular schwannoma: Increased PMID 29517885	Comprehensive (81 genes)	PMID: 29517885, 28620004, 27921248
MAX										Pheochromocytoma: Increased Paraganglioma: Possibly increased PMID: 28384794	Comprehensive (81 genes)	PMID: 28384794, 22452945, 20301715, 30536464
MEN1						Gastrinoma: 20-61% Funtioning pancreatic neuroendocrine tumor: 20-80%	Gastric carcinoid tumors: 7-35%			Parathyroid tumors: 98% PMID: 22723327, 11739416 Pituitary adenomas: 35% PMID: 22723327, 11739416 Thymic carcinoid tumors: 10% PMID: 22723327, 11739416 Lung neuroendocrine carcinoid tumor: 10% PMID: 22723327, 11739416	Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Neuroendocrine and Adrenal Tumors V.2.2020 PMID: 20301710, 11739416, 22723327
MET									Papillary RCC: Up to 100%; increased risk of bilateral/multifocal disease		Comprehensive (81 genes)	PMID: 15371818, 15285561, 30372385, 26637977, 33085428, 31801140, 33724750, 10433944
MITF (E318K)					Increased				Possibly increased		Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 22012259, 26488006, 22080950, 26892650, 26650189
MLH1		4-20%	34-54%	46-61%		6.20%	5-7%	4.4- 13.8%		Biliary tract: 1.9-3.7% PMID: 21642682, 28754778 Brain/CNS: 0.7-1.7% PMID: 27013479, 18398828 Renal pelvis and/or ureter: 0.2-5% PMID: 21642682, 28754778, 27013479, 26385421, 23091106 Bladder: 2-7% PMID: 28754778, 27013479, 26385421, 23091106 Small bowel: 0.4-11% PMID: 21642682, 23413378, 23091106	Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647
MSH2		8-38%	21-57%	33-52%			0.2-9%	3.9- 23.8%	2.2- 28%	Biliary tract: 0.02%-1.7% PMID: 21642682, 28754778 Brain/CNS: 2.5-7.7% PMID: 28754778, 31337882, 18398828 Urothelial: 2.2-28% PMID: 21642682, 28754778, 31337882, 23091106, 26385421, 18398828 Bladder: 4.4-12.8% PMID: 28754778, 31337882, 23091106, 26385421 Small bowel: 1.1-10% PMID: 21642682, 28754778, 23091106, 18398828	Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647
MSH3 biallelic				Uncertain cancer risk Increased risk for polyposis (many polyps)							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 35675019
MSH6		Up to 13%	16-49%	10-44%			Up to 7.9%		Up to 5.5%	Biliary tract: 0.2-PMID: 21642682, 28754778 Brain/CNS: 0.8-1.8% PMID: 20028993, 27013479, 28466842 Urothelial: 0.7-5.5% PMID: 21642682, 28754778, 27013479, 23091106, 26385421 Bladder: 1-8.2% PMID: 28754778, 27013479, 23091106, 26385421 Small bowel: PMID: 21642682, 23091106	Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647
MUTYH biallelic				70-90%						Duodenal: 4% PMID: 21171015, NCCN CRC	Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023
NBN										Increased risk Lymphoma and solid tumors PMD: 22373003	GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 20301355, 22373003
NF1	Female: 20-40% (until age 50)									Peripheral nerve sheath tumors: Increased PMID: 19937438, 26926675, 16786042	GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.1.2023 PMID: 31010905, 2746095, 20301288
NF2										Vestibular schwannomas: Up to 100%, usually in both ears Spinal tumors : 66% Meningiomas: Up to 80% Astrocytoma: Possibly increased PMID: 20301380	Comprehensive (81 genes)	PMID: 20301380, 34464224, 15945431, 21278391, 16147576
NTHL1 biallelic	Female: 6-56% by age 60		6-56% by age 60	>20% Increased risk for polyposis (many polyps)							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023
PALB2	Female: 41-60% Male: 0.9%	3-5%				2-5%					GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024
PDGFRA										Gastrointestinal stromal tumor (GIST): PMID: Possibly increased \| 27437068	Comprehensive (81 genes)	PMID: 27437068
PHOX2B										Neuroblastoma: Up to 50% Ganglioneuroblastoma: <5% Ganglioneuroma: <5% PMID: 20301600	Comprehensive (81 genes)	PMID: 20301600, 28607627, 15338462
PMS2		1.3-3%	13-26%	8.7-20%			Unknown		Up to 3.7%	Biliary tract: 0.2- PMID: 28754778 Brain/CNS: 0.6-PMID: 30161022 Urothelial: PMID: 31337882	Lynch syndrome (5 genes) GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 20825397, 32534647
POLD1				>20% cancer risk Increased risk for polyposis (many polyps)							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
POLE				>20% cancer risk Increased risk for polyposis (many polyps)							Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
POT1					Cutaneous melanoma: Increased					Chronic lymphocytic leukemia: Increased Angiosarcomas (cardiac and breast): Increased Glioma: Possibly increased PMID: 33119245	Comprehensive (81 genes)	PMID: 33119245, 28853721, 27528712
PRKAR1A										Myxoma: up to 40% Primary pigmented nodular adrenocortical disease: 25% Large-cell calcifying Sertoli cell tumors: up to 41% Skin lesions: 30-80% Ovarian tumors: possibly increased PMID: 26130139, 25905341, 20301463	Comprehensive (81 genes)	PMID: 29372846, 28620449, 26130139, 30259502, 20301463, 15274075, 9351565, 32965923, 32809376, 25905341, 11095480
PTCH1										Basal cell carcinoma: up to 90% Medulloblastoma: 2% Cardiac fibroma: 2% Ovarian fibroma: 20% Jaw keratocysts: 90% PMID: 20301330	Comprehensive (81 genes)	PMID: 20301330, 27386043, 30725766, 32698852, 31778444, 28620006, 27386043, 8042673, 25403219
PTEN	Female: 40->60%		28%	11-20%	6%				34%	Thyroid: 21-38% PMID: 17768394, 18972196, 22252256, 20565722	GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024
RAD51C	Female: 17-30%	10-15%									GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Breast, Ovarian, and Pancreatic V.2.2024
RAD51D	Female: 17-30%	10-20%									GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian, and Pancreatic V.2.2024
RB1										Retinoblastoma: up to 90% (often bilateral) PMID: 29056300 Pinealoma (tumor in the pineal gland in the brain): Increased PMID 20301625 Osteosarcoma, Soft tissue sarcoma, Melanoma: Increased, especially if retinoblastoma was treated with radiation therapy PMID 20301625 Epithelial cancers (including lung and bladder): Increased PMID 20237571, 14996857	Comprehensive (81 genes)	PMID: 29056300, 20301625, 20237571, 14996857, 33801943
RET										Subtype: [MEN2A] Medullary thyroid cancer: 95% Pheochromocytoma: 50% Parathyroid disease: 20-30% [FMTC] Medullary thyroid cancer: 100% [MEN2B] Medullary thyroid cancer: 100% Pheochromocytoma: 50% Parathyroid disease: rare PMID: 31390501	Comprehensive (81 genes)	PMID: 20301434, 31390501, 25810047
RHBDF2										Esophageal: Up to 95% (based on a small number of known affected families) PMID: 18559331	Comprehensive (81 genes)	PMID: 18559331, 26419362, 28723042
RUNX1										Myelodysplastic syndrome/acute myeloid leukemia: 20-50% PMID: 33661592	Comprehensive (81 genes)	PMID: 33661592, 18723428, 19357396
SDHA									Increased	Gastrointestinal stromal tumor (GIST): Increased Thyroid: Increased Paraganglioma/Pheochromocytoma: Increased PMID: 20301715	Comprehensive (81 genes)	PMID: 20301715
SDHAF2										Gastrointestinal stromal tumor (GIST): Possibly increased Paraganglioma: Increased; Pheochromocytoma: Possibly increased PMID: 31390501, 21224366	Comprehensive (81 genes)	PMID: 20301715, 31390501, 33081307, 21224366, 30536464
SDHB									Increased	Gastrointestinal stromal tumor (GIST): Increased Thyroid: Increased Paraganglioma/Pheochromocytoma: Increased PMID: 20301715	Comprehensive (81 genes)	PMID: 20301715
SDHC									Increased	Gastrointestinal stromal tumor (GIST): Increased Thyroid: Increased Paraganglioma/Pheochromocytoma: Increased PMID: 20301715	Comprehensive (81 genes)	PMID: 20301715
SDHD									Increased	Gastrointestinal stromal tumor (GIST): Increased PMID: 20301715 Thyroid: Increased Paraganglioma/Pheochromocytoma: Increased PMID: 20301715	Comprehensive (81 genes)	PMID: 20301715
SMAD4				Up to 50%			Up to 21%			Small bowel: Rare, currently undefined PMID: 25645574	Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022 PMID: 19553198
SMARCA4		Small cell carcinoma of hypercalcemic type: Possibly increased								Rhabdoid tumors: Possibly increased (preliminary evidence) PMID: 25886974, 27866340, 20137775, 25060813	Comprehensive (81 genes)	PMID: 25886974, 29215836
SMARCB1										[Rhabdoid tumor predisposition syndrome]: Rhabdoid tumor of the kidney, central nervous system, and/or other organs: Increased; Schwannoma: Possibly increased PMID: 29215836, 33692948, 28620006 [Schwannomatosis]: Schwannoma: Increased; Meningioma: Mildly increased; Malignant schwannoma: Possibly increased PMID: 29215836, 33692948, 28620006	Comprehensive (81 genes)	PMID: 29215836, 29517885, 33692948, 28620006
SMARCE1										Meningioma: Increased PMID: 29215836, 26803492, 27891692, 27264197	Comprehensive (81 genes)	PMID: 26803492, 27891692, 27264197
STK11	Female: 32-54%	Sex cord tumors with annular tubules or SCTAT: At least 20%	9%	39%		11-36%	29%			Small bowel: 13% PMID: 16707622, 11113065 Lung: 7-17% PMID: 16707622, 11113065 Testicular tumors: 9% PMID: 16707622 Cervical adenoma malignum: 10% PMID: 16707622	GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.1.2023 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2022
SUFU										Basal cell carcinoma: Up to 90% Medulloblastoma: Up to 33% Cardiac fibroma: 2% Ovarian fibroma: Increased PMID: 20301330	Comprehensive (81 genes)	PMID: 20301330, 28620006, 21834049, 33024317, 28965847
TERC										Acute myeloid leukemia: Increased; squamous cell carcinoma of head and neck: Increased; anal and genital cancer: Increased PMID: 20301779	Comprehensive (81 genes)	PMID: 20301779, 33808277
TERT biallelic										Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased PMID: 20301779	Comprehensive (81 genes)	PMID: 20301779, 19282459, 33808277
TERT monoallelic										Acute myeloid leukemia; squamous cell carcinoma of head and neck; anal cancer; genital cancer: Increased PMID: 20301779	Comprehensive (81 genes)	PMID: 20301779, 19282459, 33808277
TMEM127									Possibly Increased	Gastrointestinal stromal tumor (GIST): Possibly increased PMID: 24334765, 31390501, 21613359 Pheochromocytoma/Paraganglioma: Increased PMID: 31390501, 21613359	Comprehensive (81 genes)	PMID: 24334765, 20301715, 31390501, 21613359
TP53	Female: >60%			>20%		5%				Sarcoma: Increased PMID 27496084, 1933872, 20301488 Brain/CNS: Increased PMID 27496084, 1933872, 20301488 Adrenocortical carcinoma: increased PMID 27496084, 1933872, 20301488 Leukemia: Risk not well established PMID 27496084, 23334668, 24706533,20301488	GYN guidelines-based (19 genes) Multi-Cancer (40 genes) Comprehensive (81 genes)	NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic V.2.2024 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High Risk Assessment: Colorectal V.1.2023 PMID: 20301488, 34709361, 31533767
TSC1									Kidney cancer: 2-5% Kidney tumors: Increased	Brain/CNS: Increased PMID: 20301399 Lung (lymphangioleiomyomatosis): Increased in females PMID: 20301399 Cardiac rhabdomyomas: Increased PMID: 20301399	Comprehensive (81 genes)	PMID: 20301399
TSC2									Kidney cancer: 2-5% Kidney tumors: Increased	Brain/CNS: Increased PMID: 20301399 Lung (lymphangioleiomyomatosis): Increased in females PMID: 20301399 Cardiac rhabdomyomas: Increased PMID: 20301399	Comprehensive (81 genes)	PMID: 20301399
VHL						Pancreatic Neuroendocrine tumor: ~5-17%			~70% by age 60	CNS Hemangioblastoma: 60-80% PMID: 20301636 Pheochromocytoma: 10-20% PMID: 20301636 Endolymphatic sac tumor: 10-16% PMID: 20301636	Multi-Cancer (40 genes) Comprehensive (81 genes)	PMID: 20301636
WT1									Wilms tumor: Increased	Gonadoblastoma: Increased PMID: 32352694, 34134020	Comprehensive (81 genes)	PMID: 32352694, 34134020