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12 Cards in this Set

  • Front
  • Back

BRCA1

HBOC syndrome


Breast 87% increased lifetime risk. 7% of all breast cancers.


BRCA2

HBOC syndrome


Ovarian 63% increased lifetime risk 11-15% of ovarian cancer.


Prostrate Cancer increased risk


Pancreatic cancer increased risk


Male Breast cancer increased


Possibly Melanoma possible increase.

MSH2

Endometrial Cancer 15-60% increased risk by 70

PMS2 GENE

CRC COLORECTAL increased risk up to 20% by 70.

PMS2 Gene

Endometrial Cancer increased risk up to 15% by 70

APC

Familial Adenomatous polposis and AFAP/Attenuated FAP.


Increased risk of CRC 70-100% by 70yr old.


LIKELY to develop large number of colorectal adenonas >100

TP53

women all cancer risk up to 100%


Li-Fraumeni syndrome men all cancer risk up to 73%


Elevated risk of all 8 Cancer targets by myrisk as well as rare Adrenocortical carcinomas choroid plexus tumors and sarcoma. Diagnosis in childhood many primary tumors over lifetime.


NCN provides detailed guidelines.

PTEN

Syndrome associated Hamartone tumor


Subtypes Cowden syndrome


Increased risk breast Cancer 25-50%


Thyroid 3-10%


Endometrial 5-10%


CRC up to 7%

MUTYH

MUTYH associated Polyposis(MAP) Recessive (needs biallelic Mutation) increased risk CRC 43-100%


Small bowel-increased

CDH1

Hereditary Diffuse gastric Cancer risk of gastric Cancer 80%

CDKN2A

P16ink4e risk melnoma 76%

CDNK2A

P14ARF/familial Atypical multiple mole Melanoma syndrome (FAMMM) pancreatic cancer 17%