Highly Penetrant Genes for Cancer

Question 1

CDKN2A, CDK4

Answer 1

Syndrome: FAMMM

Cancer Spectrum/Risks:
CDKN2A: 28-76% melanoma, <17% pancreas, others
CDK4: 74% melanoma, pancrease, breast, others

Question 2

APC

Answer 2

Syndrome: FAP/AFAP

Cancer Spectrum/Risks: Up to 100% CRC, <5% thyroid, pancreas, small bowel, gastric, liver

Question 3

BRCA1/BRCA2

Answer 3

Syndrome: HBOC

Cancer Spectrum/Risks: 41-84% breast, 11-54% ovarian, 30% prostate 3-7% pancreas/male breast

Question 4

CDH1

Answer 4

Syndrome: HDGC

Cancer Spectrum/Risks: 40-83% diffuse gastric, 39-52% lobular breast, CRC

Question 5

BMPR1A, SMAD4

Answer 5

Syndrome: JPS

Cancer Spectrum/Risks: 40-70% CRC, 21% gastric

Question 6

TP53

Answer 6

Syndrome: LFS

Cancer Spectrum/Risks: 73% for male carriers and nearly 100% for female carriers; breast cancer, sarcoma, brain, osteosarcoma, adrenal

Question 7

MLH1, MSH2, MSH6, PMS2, EPCAM

Answer 7

Syndrome: Lynch

Cancer Spectrum/Risks: 20-80% CRC, 15-60% uterine, <3% brain, sebaceous tumors, breast, pancreas, prostate

Question 8

MUTYH

Answer 8

Syndrome: MAP

Cancer Spectrum/Risks: <80% CRC, ~4% duodenum, endometrial, ovarian, bladder, breast, and skin

Question 9

STK11

Answer 9

Syndrome: PJS

Cancer Spectrum/Risks: 32-54% breast, 39% CRC, 11-36% pancreas, 29% gastric, 21% ovarian tumors, 15% lung, 13% small bowel, 10% cervical/uterine, 9% testicular tumors

Question 10

PTEN

Answer 10

Syndrome: PTHS

Cancer Spectrum/Risks: 25-50% breast, 10% thyroid, <10% uterine, melanoma, renal, CRC

Question 11

VHL

Answer 11

Syndrome: VHL

Cancer Spectrum/Risks: 70% renal, <17% pancreas (neuroendocrine), pheos