Introduction:
The most frequent cause of hereditary breast and ovarian cancer is hereditary breast and ovarian cancer syndrome. Men and women of all racial and ethnic backgrounds are affected by the illness. BRCA1 and BRCA2 gene mutations and those in other hereditary cancer genes cause HBOC syndrome. Women are more likely to get breast and ovarian cancer if they inherit a mutation in the BRCA genes or another hereditary cancer gene that raises a person's risk for the disease. Males who have a genetic mutation are more susceptible to prostate and breast cancer.
What Is the Syndrome Known as Hereditary Breast and Ovarian Cancer (HBOC)?
A hereditary disease called HBOC syndrome raises chances compared to someone without the condition. Before the age of 50, the risk may also be significantly higher. Similar to other hereditary cancers, a reliable description describes genetic mutations inherited from parents. While there is no guarantee that someone with such genetic alterations from hereditary cancer syndromes would get cancer, their risk is significantly increased.
Who Is Susceptible to the Genetic Syndromes of Ovarian and Breast Cancer?
According to research, one in 300 and one in 800 persons carry a dangerous mutation in either the BRCA1 or BRCA2 gene. Given that HBOC is a hereditary condition, a significant risk factor is a family history of breast, ovarian, and other malignancies. Each kid of a parent with a BRCA1 or BRCA2 mutation has a 50 percent risk of inheriting the mutation.
What Is the Chance of Developing Cancers for Those With Inherited Ovarian and Breast Cancers?
The age of an individual, the type of cancer, and whether or not BRCA1 or BRCA2 is mutated all influence their cancer risk. However, the average chance that a person with HBOC may experience multiple cancers by the time they are 70 years old is as follows:
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Carcinoma of the Breast: The lifetime risk of breast cancer for women is approximately 12 percent. For women with BRCA1 or BRCA2 mutations, the risk increases to 55 to 70 percent and 45 to 70 percent, respectively.
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Ovarian Cancer: Around one percent of people will get ovarian cancer throughout their lifetime. However, the risk is roughly 15 percent for BRCA2 carriers and 40 percent for BRCA1 carriers.
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Carcinoma of the Prostate: Male BRCA1 carriers have a 15 to 25 percent chance of developing prostate cancer, whereas BRCA2 carriers have a 30 to 40 percent chance. In comparison, the risk in the general population is between 14 and 19 percent.
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Male Breast Cancer: Men are about 0.1 percent more likely to develop breast cancer. On the other hand, men who carry BRCA1 or BRCA2 mutations are at one percent and eight percent risk, respectively.
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Pancreas Cancer: The average lifetime risk of pancreatic cancer is 1.5 percent. The risk increases to two to four percent for BRCA1 carriers and five percent for individuals with BRCA2 mutations.
Is It Possible to Stay away From HBOC?
If a person with HBOC wants to have children and lower their child's risk of developing this inherited syndrome, there are treatments available. An additional medical treatment used in conjunction with in-vitro fertilization (IVF) is the preimplantation genetic diagnosis (PGD). It makes it possible for those with a certain genetic mutation to lessen the chance that their offspring will also have the illness. A woman's eggs are extracted and fertilized in a lab for PGD. One cell is removed from each embryo when it reaches a particular size, and its genetic status is examined. After this, the parents can decide whether to transfer the embryos without the mutation. For more than 20 years, PGD has been utilized to treat many hereditary cancer disorders. But before beginning, keep in mind that it is a complicated process with physical, emotional, and financial aspects to consider. Speak with an assisted reproduction specialist at a fertility clinic for further details.
For Whom Should a BRCA1 and BRCA2 Mutation Test Be Performed?
According to National Comprehensive Cancer Network (NCCN) standards, anyone who fits any of the following descriptions ought to think about getting tested:
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A pathogenic or detrimental BRCA1 or BRCA2 mutation was previously discovered in the family.
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At least one family member under 50 years has breast cancer.
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Breast cancer can be identified in people of Ashkenazi Jewish descent at any age.
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At any age, three or more relatives suffer from breast cancer.
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One or both breasts suffer from multiple primary breast cancers.
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Identifying breast cancer at or before the age of 50.
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Primary peritoneal cancer and fallopian tube cancer are examples of ovarian cancer.
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Breast cancer in men.
HBOC Genetic Counseling and Testing:
Speak with a doctor if one has concerns about any family or personal history of cancer. The doctor could suggest seeing a genetic counselor or another medical specialist to review the advantages and disadvantages of genetic testing for HBOC. Under the Affordable Care Act, many health insurance companies frequently offer BRCA genetic counseling and testing without cost sharing, though this is only sometimes true.
What Are the Treatments?
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Tumors with changes in either BRCA1 or BRCA2 genes are more vulnerable to anticancer drugs like Cisplatin, which damage DNA (deoxyribonucleic acid) because these genes are involved in DNA repair.
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It has been discovered that a family of medications known as poly ADP ribose polymerase (PARP) inhibitors, which prevent DNA damage from being repaired, can stop the growth of cancer cells harboring dangerous BRCA1 or BRCA2 mutations. Four inhibitors of PARP are Talazoparib, Olaparib, Rucaparib, and Niraparib.
Can At-Home DNA Test Kits Be Used for BRCA Testing?
BRCA testing is available in several at-home DNA test kits. Currently, out of thousands of known BRCA variants, these tests can identify just three. The National Cancer Institute (NCI) states that this could lead to a person testing "negative" with an at-home kit when, in fact, they have a dangerous mutation that the test missed. Furthermore, it could be easier to understand the data with the help of a genetic counselor.
Conclusion
An increased risk for both male and female breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and, to a lesser extent, other cancers like prostate, pancreatic, and melanoma are the hallmarks of BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC).
