Genes and Cancer Impact

Hereditary Breast and Ovarian Cancer Syndrome

Clinical Summary
Up to 90% risk for breast cancer and 62% risk for ovarian cancer

Management Summary

  • Early and frequent mammograms/breast MRIs
  • Preventative medications
  • Risk-reducing surgery

Hereditary Breast and Ovarian Cancer Syndrome

Genes
Ovarian
Breast
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
BRCA1
BRCA2

Breast Cancer Risk Genes

Clinical Summary
Variably increased risk for breast cancer, and sometimes other cancers

Management Summary
Potentially early and frequent mammograms/ breast MRIs

Breast Cancer Risk Genes

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
ATM
BARD1
CHEK2
NBN
NF1
PALB2

Ovarian Cancer Risk Genes

Clinical Summary
Variably increased risk for ovarian cancer and sometimes other cancers

Management Summary
Risk-reducing surgery

Ovarian Cancer Risk Genes

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
BRIP1
RAD51C
RAD51D

Lynch Syndrome

Clinical Summary
Up to 82% risk for colorectal cancer and 60% risk for endometrial cancer

Management Summary

  • Early and frequent endoscopies/colonoscopies
  • Risk-reducing surgery

Lynch Syndrome

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
EPCAM
MLH1
MSH2
MSH6
PMS2

Polyposis Syndromes

Clinical Summary
Increased but variable risk for gastrointestinal polyposis and colorectal cancer

Management Summary

  • Early and frequent endoscopies/colonoscopies
  • Risk-reducing surgery

Polyposis Syndromes

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
APC
BMPR1A
MUTYH
POLD1
POLE
SMAD4

Hereditary Diffuse Gastric Cancer

Clinical Summary
Up to 83% risk for diffuse gastric cancer and 53% risk for lobular breast cancer

Management Summary

  • Early and frequent endoscopy/mammograms/breast MRI
  • Risk-reducing surgery

Hereditary Diffuse Gastric Cancer

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
CDH1

Hereditary Melanoma

Clinical Summary
Up to 70% risk for melanoma

Management Summary
Skin protection and skin exams

Hereditary Melanoma

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
CDK4
CDKN2A

Multiple Endocrine Neoplasias

Clinical Summary
High risk for endocrine-related tumors

Management Summary

  • Biochemical evaluation
  • Imaging surveillance

Multiple Endocrine Neoplasias

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
MEN1
RET

PTEN Hamartoma Tumor Syndrome

Clinical Summary
Up to 85% risk for breast cancer

Management Summary

  • Early and frequent imaging
  • Risk-reducing surgery

PTEN Hamartoma Tumor Syndrome

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
PTEN

Li-Fraumeni Syndrome

Clinical Summary
High risk for breast cancer and sarcoma and overall 90% risk for cancer by age 60

Management Summary

  • Early and frequent imaging/physical exams
  • Risk-reducing surgery

Li-Fraumeni Syndrome

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
TP53

Peutz-Jeghers Syndrome

Clinical Summary
Increase lifetime risk for breast, GI, pancreatic, ovarian, and other cancers

Management Summary
Early and frequent imaging/physical exams

Peutz-Jeghers Syndrome

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
STK11

Von Hippel-Lindau Syndrome

Clinical Summary
Increased lifetime risk for kidney cancer, neuroendocrine tumor of the pancreas, and pheochromocytoma/paraganglioma

Management Summary
Early and frequent imaging/physical exams

Von Hippel-Lindau Syndrome

Genes
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
VHL

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