Cancers and Genetics

BRCA1 and  BRCA2

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BRCA1 [ CUP C akes]

mutations may increase risk of

  • cervical

  • uterine

  • pancreatic

  • colon cancer

BRCA2 [ PaSt GaMe ]

mutations may increase the risk of

  • pancreatic

  • stomach

  • gallbladder and bile duct

  • melanoma


BRCA1 [Breast [Pan ProTest]

associated with

  • breast cancer

possibly associate with following cancers as well

  • pancreatic

  • prostate [early onset]

  • testicular

BRCA2 [Pan ProBer]

The following are more strongly associated with BRCA2 than BRCA1 mutations

  • pancreatic

  • prostate

  • breast


Currently, there are no standard criteria for recommending BRCA1 or BRCA2 mutation testing.

In a family with a history of breast and/or ovarian cancer, it may be most informative to first test a

family member who has breast or ovarian cancer.

If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members

can be tested to see if they also have the mutation.


(hereditary non-polyposis colorectal cancer)

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  • rare

  • most common hereditary bowel cancer

  • < 5% of bowel cancers linked to HNPCC

  • Women with HNPCC at increased risk of endometrial cancer

  • fault in 'mismatch repair' gene

Suspect in families with following cancers over several generations

  • bowel

  • uterine

  • ovarian

Specifically, suspect if:

  • 2 relatives on the same side of family had bowel cancer

  • family member had bowel cancer under 45

  • cases of bowel and uterine cancer on same side of family

  • 3 relatives on the same side of family have had one HNPCC-type cancer
    [not necessarily the same kind]

Genetic testing

All that's needed is a blood sample, but it can take a while (up to a year) to get results 

as the genes are large and the faulty gene may be difficult to find.

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