What are other Names for this Condition? (Also known as/Synonyms)

• HBOC Syndrome
• Hereditary Breast-Ovarian Cancer Syndrome

What is BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome? (Definition/Background Information)

• BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome is a malignant condition inherited in an autosomal dominant manner. Individuals with this condition have germline mutations in the BRCA1 and BRCA2 genes which increases the risk of developing breast and ovarian cancer
• If one parent has a BRCA1/BRCA2 gene mutation, each of their children has a 50% chance of inheriting this mutation. Hereditary Breast-Ovarian Cancer Syndrome is also known as a cancer predisposition syndrome
• It can occur in both males and females and is most commonly found in individuals with a family history of the condition. Having other forms of cancer may also increase the risk for developing Hereditary Breast-Ovarian Cancer (HBOC) Syndrome
• Hereditary Breast-Ovarian Cancer Syndrome does not necessarily cause symptoms because it is simply a precursor to developing certain forms of cancer. However, individuals with HBOC Syndrome who develop breast/ovarian cancer may experience varied symptoms including fatigue, weight loss, pelvic pain, and breast lumps/thickening
• Hereditary Breast-Ovarian Cancer Syndrome can be diagnosed with standard gene sequence testing. The treatment measures for malignancies may include surgery, radiation therapy, and chemotherapy based on the healthcare provider’s evaluation. The overall prognosis is generally good since the condition is only a risk for the development of breast and/or ovarian cancer

Who gets BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome? (Age and Sex Distribution)

• Although Hereditary Breast-Ovarian Cancer Syndrome affects both males and females, female breast cancer is the most common type of cancer associated with this BRCA gene variation
• The prevalence is estimated to be somewhere between 1 in 200 to 1 in 800 among the general population. However, it is very high in individuals of Ashkenazi Jewish descent at 1 in 40
• Hereditary Breast-Ovarian Cancer Syndrome is the most common cause of hereditary breast and ovarian cancer in all ethnic and racial backgrounds

What are the Risk Factors for BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome? (Predisposing Factors)

The following are risk factors for BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome: 

• Being of Ashkenazi Jewish heritage
• Having a family history of breast, ovarian, prostate and/or pancreatic cancer
• Female gender: Women have a much greater chance of developing breast cancer than men

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome? (Etiology)

• Hereditary Breast-Ovarian Cancer Syndrome is caused by the inheritance of a mutation in the BRCA1 or BRCA2 genes from one’s parents. The BRCA gene is named after “breast cancer”
• Mutations in these genes can cause uncontrolled cell growth which ultimately leads to the development of cancerous cells and tumors

What are the Signs and Symptoms of BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome?

Hereditary Breast-Ovarian Cancer Syndrome does not necessarily cause any signs or symptoms given that it is simply a risk factor for developing cancer. However, if an individual with Hereditary Breast-Ovarian Cancer Syndrome does ultimately develop breast or ovarian cancer, he/she may experience the following symptoms:

The following are common signs/symptoms associated with Breast Cancer: 

• Breast lump or thickening
• Changes in the appearance of a breast
• Inversion of nipple
• Bloody discharge from nipple
• Pain in breast

The following are common signs/symptoms associated with Ovarian Cancer: 

• Abdominal pain
• Abdominal swelling increased abdominal girth
• Nausea and vomiting
• Changes in bowel movements
• Loss of appetite
• Weight loss
• Fatigue 
• Frequent urination
• Abnormal menstrual bleeding

How is BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome Diagnosed?

The following can be used to diagnose BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome:

• Complete physical exam and medical history evaluation
• Standard gene sequencing test

The following are specific diagnostic tools for Ovarian Cancer: 

• Pelvic exam
• Complete blood count (CBC) test
• Liver function test
• Imaging of abdomen (X-ray, CT, MRI, or ultrasound scan)
• Exploratory laparoscopy
• Tissue biopsy of tumor

The following are specific diagnostic tools for Breast Cancer: 

• Breast exam
• Mammogram
• Breast ultrasound
• MRI scan 
• Breast biopsy
• Blood tests
• CT scan
• Bone scan

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the Possible Complications of BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome?

Individuals with BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome who develop cancer may experience these possible complications:

• Depression
• Heart damage
• Secondary cancers
• Malignancy of the cancer
• Bowel obstructions
• Bone pain
• Surgical complications
• Side-effects from chemotherapy
• Lymphedema, or the swelling of an arm, can occur after surgery or radiation therapy.

How is BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome Treated?

The treatment of BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome depends on the severity of the condition:  

• The treatment often requires coordinated efforts from a team of physicians specializing in diagnosis of the cancer (medical oncologists), radiation oncologists, oncology nurses, psychiatrists, and others
• Genetic counseling is a commonly used therapy for individuals with Hereditary Breast-Ovarian Cancer Syndrome. Genetic counseling helps individuals understand the risk of cancer based on their specific variation in the BRCA1 or BRCA2 genes
• Depending on the individual’s health and age, they may receive drug regimens to aid with their diagnosis
• Chemoprevention uses certain drugs, such as tamoxifen, to lower the risk for developing breast cancer
• Hormone therapy
• Surgical removal of the tumor, as needed

Regular observation and periodic checkups to monitor the condition is highly recommended.

How can BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome be Prevented?

Given that Hereditary Breast-Ovarian Cancer Syndrome is an inherited condition, it cannot be prevented. However, measures can be taken to reduce one’s risk of developing cancer such as risk-reducing surgery and chemoprevention.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome? (Outcomes/Resolutions)

• Hereditary Breast-Ovarian Cancer Syndrome generally has a positive prognosis because it is only a risk factor for developing certain types of cancer
• Currently, new and improved treatments are helping to increase the longevity of individuals with breast cancer. Nevertheless, cancer can return or spread to other areas of the body even with proper treatment
• The following factors are used to determine the prognosis for breast cancer:
  • Staging of the cancer
  • Location, size, and shape of the tumor
  • Type of breast cancer
  • Hormone-receptor status of breast cancer
  • Presence of tumor indicators such as HER2 proteins (growth-promoting proteins)
  • Cell growth rate
  • Likelihood of cancer returning
  • Age of the individual
  • Menopausal status
• The prognosis of ovarian cancer depends upon a number of factors including:
  • The stage of the tumor: Tumors that are staged lower have a better prognosis than tumors that are staged higher
  • The size of the tumor
  • Age of the individual
  • Overall health of the individual
  • Presence of metastasis and the organs involved
  • The patient’s response to treatment such as chemotherapy or radiation therapy

Additional and Relevant Useful Information for BRCA 1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome:

It is estimated that 1 in 8 women will be diagnosed with Breast Cancer during their lifetime. This means that approximately 220,000 women (in the US) will be diagnosed with the disease and fatalities may be around 40,000.