CMM 520 cancer genes with associations

ATM

AD: breast, pancreatic, ovarian, prostate, GI cancers

AR: ataxia telangiectasia

(ataxia telangiectasia cancers: lymphoma, leukemia, breast, ovarian, gastric, melanoma, leiomyomas, sarcomas)

BARD1

AD female breast ca

BRIP1

AD: female breast ca and ovarian ca

AR: Fanconi anemia

CDH1

AD: Hereditary diffuse gastric cancer (lobular breast, signet ring gastric cancer)

CHEK2

AD: Breast, colon, prostate, kidney, and thyroid

PALB2

AD: breast (M&F), pancreatic, ovarian, and prostate ca

NF1

Neurofibromatosis type 1

cancers: malignant peripheral nerve sheath tumors, female breast, GI stromal tumors, brain, leukemia, paragangliomas and pheochromocytomas

PTEN

AD: Cowden syndrome

Cancers: breast, thyroid, kidney, uterine/endometrial, CRC, melanoma

RAD51C and RAD51D

AD: female breast ca and ovarian ca

AR: Fanconi anemia

STK11

AD: Peutz-Jeghers syndrome

cancers: breast, CRC, pancreatic, stomach, ovarian, lung, small intestine, cervical, uterine/endometrial, testicular

TP53

AD: Li-Fraumeni

cancers: female breast, CRC, adrenocortical carcinoma, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, brain, sarcoma, leukemia, lymphoma (4 B's)

APC

Familial adenomatous polyposis syndrome and attenuated familial adenomatous polyposis

cancers: CRC, stomach, small intestine, pancreas, biliary tract, papillary thyroid

BMPR1A, SMAD4

Juvenile polyposis syndrome

MLH1, MSH2, MSH6, PMS2, EPCAM

Lynch syndrome (colorectal, endometrial, ovarian, kidney, bladder, gastric, small bowel, pancreas, biliary tract, prostate, breast (F), brain, skin)

Which lynch syndrome genes are associated with an increased risk of breast cancer?

MSH6 and PMS2

MUTYH

MYH-Associated polyposis

BLM

Bloom syndrome

cancers:

-SqCC

-leukemia

-lymphoma

-GI tract ca

KIT, PDGFRA

Familial gastrointestinal stromal tumor

VHL

Von Hippel-Lindau syndrome

cancer: renal cell carcinoma, hemangiomas, pheos/PGLs

del 11p13 (WT1 and PAX6 genes)

WAGR (Wilms tumor, aniridia, GU anomaly, cognitive impairment)

WT1

Wilms tumor, Frasier syndrome, Denys-Drash syndrome

FLCN

Birt-Hogg-Dube

cancers: kidney, thyroid, prostate, colon skin, GI, head and neck, endocrine, heme, lymph, lung, breast, endometrial, hemangiomas

MET

Hereditary papillary RCC

BAP1

BAP1-associated tumor predisposition syndrome (melanoma, renal cancer, mesothelioma)

MITF

MITF-associated cancer syndrome (melanoma and renal cancer)

FH

AD: Hereditary leiomyomatosis and RCC (HLRCC)

cancers: type 2 papillary renal cell carcinoma

TSC1, TSC2

Tuberous sclerosis

tumors: CNS tumors (cortical tubers, subependymal nodules, subependymal giant-cell astrocytomas), kidney, retinal hamartomas, cardiac rhabdomyoma, angiomyolipoma, neuroendocrine

MEN1

AD: Multiple endocrine neoplasia type 1

cancers: 3P's- parathyroid, pancreas, and pituitary neuroendocrine tumors

MEN2A, FMTC, MEN2B, RET

MEN2 syndromes

tumors: medullary thyroid carcinoma, pheochromocytoma, hyperparathyoidism from tumors

SDHD, SDHB, VHL, RET

Pheochromocytomas/paragangliomas

RET

medullary thyroid cancer

PTCHI, SUFU

Nevoid basal cell carcinoma syndrome (basal cell carcinoma)

TSC1 and TSC2

Tuberous sclerosis

RB1

Retinoblastoma, osteosarcomas, melanomas, sarcomas

FAS, CASP10, FASLG

Autoimmune lymphoproliferative syndrome

cancers: Hodkin and non-Hodkin lymphoma, thyroid, breast, gliomas, skin, tongue, liver

CDKN1B

MEN4

CDKN2A

melanoma, pancreatic tumors, neural tumors

CDK4

melanoma

CDKN1C or 11p15.5 abnormal methylation

Beckwith-Wiedemann

Wilms tumors

BRCA1

AD: Hereditary breast and ovarian cancer syndrome (breast, ovarian, prostate, pancreatic, male breast)

BRCA2

AD: Hereditary breast and ovarian cancer syndrome (breast, prostate, ovarian, male breast, pancreatic, melanoma)

AR: Fanconi anemia

Fanconi anemia

-acute myeloid leukemia

-head and neck sqCC

-oral ca

-vulva ca

-esophageal ca

-GI tract

-anal ca

Xeroderma pigmentosum

skin cancer (BCC, SqCC, and melanoma)