Hereditary Breast and Ovarian Cancer
Hereditary breast and ovarian cancer syndrome (HBOC) is characterized by a high risk of breast and ovarian cancers. Two genes are associated with the majority of HBOC families: BRCA1 and BRCA2. BRCA stands for BReast CAncer. A woman with a BRCA1 or BRCA2 gene alteration (mutation) has a 60-80% risk of developing breast cancer, whereas the risk for an average woman is about 13%. A woman with a BRCA1 gene mutation has a 50% risk of developing ovarian cancer and a woman with a BRCA2 gene mutation 20%, whereas the normal risk for an average woman is about 1-2%.
A mutation (alteration) in either BRCA1 or BRCA2 gives a woman an increased lifetime risk of developing breast and ovarian cancers. Men with these gene mutations also have a small increased risk of breast cancer and prostate cancer. There is a small increase in the risk of other cancers including pancreatic cancer and melanoma among carriers of BRCA1 or BRCA2 mutations.
Not all families with multiple cases of breast and ovarian cancer have mutations in BRCA1 or BRCA2. Other, less common genes have also been associated with an increased risk of developing breast and other cancers. Some of these (PTEN and TP53) are include in Thematic disease group 4 other rare genturis.
Genes linked to ovarian cancer include RAD51C, RAD51D and the Lynch syndrome genes. There is also the possibility of increased genetic risk due to the combination of multiple low-risk genetic alterations (called polygenic risk).
The risk of transmission of the inherited altered gene copy from the affected parent to the offspring is 50%, regardless of the gender.
The surveillance depends on the level of the risk which varies on which gene is involved and the family history of cancer.
Breast surveillance should begin at age 25-30 with clinical examinations, mammograms and breast MRI.
Besides screening, preventive surgical removal of both breasts can reduce the risk of breast cancer by more than 90%. Only about 3% of breast cancers associated with BRCA1/2 mutations are diagnosed before age 30, so surgery could be deferred to over the age of 30 for most women.
Screening for ovarian cancer does not guarantee early detection and is not routinely recommended. Preventive surgical removal of the ovaries and fallopian tubes can reduce the risk of ovarian cancer by approximately 90%.
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Clinical practice guidelines |
ERN GENTURIS care pathway |
ERN GENTURIS patient journey |
ERN GENTURIS publications |
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Patient journey - Hereditary breast and ovarian cancer (HBOC) |
A list of healthcare providers with expertise in Thematic Group 3: Hereditary breast and ovarian cancer can be found here.
A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.