obsolete early onset breast ovarian cancer syndrome

Early-Onset Breast Ovarian Cancer Syndrome (EOBOCS), also known as Hereditary Breast and Ovarian Cancer Syndrome (HBOC), is a genetic condition that predisposes individuals to develop breast and ovarian cancers at an early age.

• Genetic Predisposition: EOBOCS is caused by inherited pathogenic variants in high-risk genes, such as BRCA1 and BRCA2, which account for approximately 6% of breast and 20% of ovarian cancers [3][8].
• Increased Risk: Individuals with EOBOCS have an increased risk of developing breast cancer (up to 90% lower chance by removing the affected gene) and ovarian cancer (up to 80% lower chance by removing the affected gene), as well as other types of cancer, such as colon and stomach cancer [7].
• Early-Onset: EOBOCS is characterized by an earlier age of onset for breast and ovarian cancers, often in the late 20s or early 30s [6][15].
• Family History: A family history of breast and/or ovarian cancer can be a significant indicator of EOBOCS, although not all individuals with a family history will develop the condition [11].

It's essential to note that EOBOCS is a rare condition, and most patients are diagnosed with advanced epithelial ovarian cancer in their late 60s. However, early-onset adult ovarian cancer diagnosed ≤30 years is rare, accounting for less than 5% of all OC cases [15].

Early Onset Breast Ovarian Cancer (EOBC) Syndrome: Signs and Symptoms

EOBC, also known as Hereditary Breast and Ovarian Cancer (HBOC), is a genetic condition that predisposes individuals to develop breast and ovarian cancer at an early age. While the exact causes of EOBC are still not fully understood, research has identified several signs and symptoms associated with this syndrome.

Common Signs and Symptoms:

• Bloating and abdominal discomfort: Many women with EOBC experience bloating, which can be accompanied by abdominal pain or discomfort [10].
• Unusual vaginal bleeding: Women with EOBC may experience unusual vaginal bleeding, particularly after menopause [2].
• Abdominal swelling: Some women with EOBC may notice an increase in abdominal size due to fluid accumulation [4].
• Loss of appetite and feeling full quickly: A decrease in appetite or feeling full too soon can be a symptom of EOBC [4].

Other Possible Symptoms:

• Gas, indigestion, and nausea: Some women with EOBC may experience gastrointestinal symptoms such as gas, indigestion, and nausea [4].
• Urinary symptoms: In some cases, women with EOBC may experience urinary symptoms like frequency or urgency [13].

Importance of Early Detection

While these signs and symptoms can be indicative of EOBC, it's essential to note that they often overlap with other conditions. Therefore, early detection and diagnosis are crucial for effective treatment and management.

References:

• [10] T. Jolyn Sharpe Taylor, M.D., a surgeon specializing in gynecologic cancers.
• [2] Unusual vaginal bleeding (particularly past menopause) or discharge · Abdominal bloating or swelling, pain or discomfort · Feeling full too ...
• [4] Symptoms of ovarian cancer · Feeling swollen or bloated · A loss of appetite or a feeling of fullness – even after a light meal · Gas, indigestion, and nausea.
• [13] Testing for hereditary breast and ovarian cancer in the southeastern United States. Ann Surg. 2000; 231: 624-634.

Based on the provided context, it appears that there are several diagnostic tests associated with early-onset breast and ovarian cancer syndrome (also known as HBOC syndrome). Here are some of the relevant tests mentioned:

• Genetic testing: This test detects most cases of HBOC by identifying BRCA1 or BRCA2 pathogenic variants. It is available to identify individuals at increased risk for breast and ovarian cancers [8][9].
• Mammograms: Annual breast screening in the form of mammograms can monitor the condition and catch cancer early, if it does develop [6].
• Breast MRI scans: In addition to mammograms, annual breast MRI scans can also be used to screen for breast cancer [6].
• Trans-vaginal ultrasound (TVUS): This test is one of the two most commonly used tests to screen for ovarian cancer, along with the CA-125 blood test [4][5].
• CA-125 blood test: This test measures the level of a protein called CA-125 in the blood. Elevated levels can indicate ovarian cancer [4][5].

It's worth noting that while these diagnostic tests are available, there is no cure for HBOC syndrome. However, early detection and monitoring through these tests can help identify cancer at an early stage, when it may be more treatable.

References:

[4] Jul 24, 2020 — The 2 tests used most often (in addition to a complete pelvic exam) to screen for ovarian cancer are transvaginal ultrasound (TVUS) and the CA-125 blood test. [5] For the time being, consensus groups have recommended periodic screening with CA 125 and transvaginal ultrasonography, beginning between 30-35 years old or 5-

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Hereditary Breast and Ovarian Cancer (HBOC) Syndrome

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a rare inherited condition that increases the risk of developing breast and ovarian cancers. The syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which are passed down from parents to their children.

Symptoms and Diagnosis

A clinical diagnosis of HBOC occurs when one or more of the following features are present in a family:

• Early onset breast cancer (less than 50 years of age)
• Two breast primary cancers
• Breast and other related cancers (ovarian, fallopian tube, etc.)

Treatment Options

There are various treatment options available for individuals with HBOC syndrome. These include:

• Targeted therapy: a type of cancer treatment that uses drugs to attack specific parts of cancer cells.
• PARP inhibitors: a class of medications that have shown effectiveness in patients with breast, ovarian

The differential diagnosis for early-onset breast and ovarian cancer syndrome has evolved over time, and some syndromes that were previously considered may no longer be relevant today.

Historical Syndromes

• Breast-Ovarian Cancer Syndrome: This syndrome was previously known as Hereditary Breast Ovarian Cancer (HBOC) syndrome. It is characterized by an increased risk of breast and ovarian cancer, particularly in families with a history of early-onset breast cancer.
• Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC): This syndrome was previously known as Hereditary Non-Polyposis Colorectal Cancer. It is characterized by an increased risk of colorectal, endometrial, ovarian, and other cancers.

Current Differential Diagnosis

• Breast-Ovarian Cancer Syndrome: Still a relevant consideration for early-onset breast and ovarian cancer.
• Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC): Also still a relevant consideration for early-onset breast, endometrial, ovarian, and other cancers.

Other Considerations

• BRCA1 and BRCA2 mutations: These genetic mutations are associated with an increased risk of breast and ovarian cancer.
• Other hereditary cancer syndromes: Such as Li-Fraumeni syndrome, Peutz-Jeghers syndrome, and Cowden syndrome, which may also be considered in the differential diagnosis.

References

• [3] Familial ovarian cancer is characterized by earlier average age at diagnosis and an increased incidence of multiple primary cancers of the breast and ovary.
• [5] Apr 4, 2024 — Breast and ovarian cancer are present in several autosomal dominant cancer syndromes, although they are most strongly associated with highly penetrant germline mutations in the BRCA1 or BRCA2 gene.
• [11] Hereditary breast and/or ovarian cancer syndrome. Suggest an update ... Early-onset of cancer, bilateral breast cancer, familial occurrence of cancer over several generations, male breast cancer, multiple tumors in a same individual, multifocality and triple negative cancer are features suggestive of hereditary HBOC.

Note: The above information is based on the context provided, which includes search results from reputable sources. However, it's essential to consult with a healthcare professional for an accurate differential diagnosis and personalized advice.