What Is the Main Idea?

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is cancer due to inherited mutated breast cancer (BRCA) genes or some other genes. Awareness about this syndrome and family history is necessary for a patient and doctor to help with the prevention and early detection of cancer. Based on the case study “Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing”, published in the journal Case Reports in Oncology, the syndrome is discussed in the context of an endometrial cancer patient in this article.

What Else Can You Learn?

This blog post discusses the function of breast cancer (BRCA) genes, the chances of developing cancer if a person has mutated genes, and the screening and diagnosis of hereditary breast and ovarian cancer.

What Is Hereditary Breast and Ovarian Cancer?

Cancer is a disease where cells in a specific part of the body grow uncontrollably, thereby destroying the healthy tissues surrounding it. There are many factors for cancer to develop and one of them is the hereditary disposition of the patient to it. Cancer itself cannot pass from parent to child. A parent can have genetic changes (mutations) in certain genes that increase the risk of developing cancer. This mutation can potentially be passed on to the child if present in the egg or sperm. This passing of a potentially cancer-causing mutated gene is termed hereditary cancer syndrome.

Hereditary breast and ovarian cancer (HBOC) is one such syndrome where the person has a higher chance of developing breast, ovarian and other types of cancers including pancreatic or prostate cancer. This hereditary cancer is often associated with mutations to the BReast CAncer 1 (BRCA1) or BReast CAncer 2 (BRCA2) gene. It must be noted that there could also be other genes that can cause this type of cancer when mutated.

What Do These Breast Cancer Genes Do?

When cells replicate, so does the DNA. At times, there might be an error in the DNA that is replicated. Breast cancer genes BRCA1 and BRCA2 are caretaker tumor-suppressor genes which means that they help repair the error and avoid any changes occurring in the gene, hence promoting genetic stability.

These breast cancer genes are also known to help in multiple other cellular processes like chromosome segregation and cytokinesis which are part of the cell division process. Hence, mutations in these genes can disrupt the regular cell division process which can result in the cells turning cancerous.

What Are the Chances of Developing Cancer with the Mutation?

If there is a cancer-causing mutation in the breast cancer genes, then there is a 65% chance of developing breast cancer by the age of 70 and a 39% chance of developing ovarian cancer. There are also higher chances of developing other cancers including pancreatic, prostate and endometrial cancer. It has been seen that hereditary breast and ovarian cancer syndrome can cause a 2- to 3-fold increase of the risk of endometrial cancer.

While the mutation has been associated with breast cancer, not all those who have breast cancer have this mutation. It must be noted that only 3% of breast cancers and 10% of ovarian cancers are due to the breast cancer (BRCA) genes.

Screening, Diagnosis, and Precautions for Hereditary Breast and Ovarian Cancer Syndrome

When there is a family history of cancer and in this case specifically, breast, ovarian or related cancers, then it is important to talk to the doctor regarding it. The doctor might suggest consulting with a genetic counselor who in turn might suggest doing a genetic test. The test will check for mutations to the breast cancer genes and other genes that have been associated with hereditary breast and ovarian cancer.

If it is determined that there is a mutated gene that could lead to cancer, then the patient should undergo more frequent cancer screenings and discuss preventive methods like medication or in some cases even surgery to remove the breasts, ovaries, and fallopian tubes.

Case Study of an Endometrial Cancer Patient with the Breast Cancer 1 (BRCA1) Gene Mutation

In a recently published case study, a 23-year-old woman with a menstrual history was diagnosed to have endometrial cancer. The doctors, assuming it to be a high-risk case, surgically removed her uterus, cervix, ovaries, fallopian tubes, and lymph nodes in the pelvic region. After the surgery, it was determined that surgery alone was sufficient for the patient’s health.

To determine the cause of this endometrial cancer, the doctors considered genetic origins since the patient had a family history of cancer on both sides of her family, including breast cancer, ovarian cancer, and colorectal cancer. Different genetic tests including multi-gene panel testing were conducted to determine if there was a genetic basis for the cancer. Interestingly, the doctors found that instead of Lynch Syndrome which is the most common genetic cause of endometrial cancer, the patient was detected to have a mutation in the breast cancer 1 gene. Hence, she was determined to have hereditary breast and ovarian cancer syndrome. Subsequently, the patient’s mother was also found to have the same mutation, and thus, both the mother and daughter were asked to undergo frequent screening to help in the early detection of cancer if it occurs in the future.


Discovering and understanding the genes causing hereditary breast and ovarian cancer has helped improve screening and treatment steps for it.

At an individual level, it is important to be aware of the family history of cancer in the family. If there is any history of cancer especially related to the breast, ovaries, fallopian tubes or prostrate, or pancreas, then the person must discuss the possibility of hereditary breast and ovarian cancer with their doctor. If there is a family member who has or who had cancer, then it might be recommended to test them first. Based on the genetic test, preventative steps for developing cancer can be taken from early on.

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