Are you at risk of breast cancer? Learn about BRCA positivity and take charge of your health. Explore insights and guidance at Meri Sehat for a proactive approach.

BRCA-Positive: Are You At Risk Of Breast Cancer?

There are two types of breast cancer (BRCA) genes present in every cell in your body – BRCA1 and BRCA2.

Introduction

They not only repair your DNA, but they also prevent cancerous changes in your cells. This is why they are also known as tumor suppressor genes.

However, if they stop working properly, they can increase your risk of cancer. 1 in 300-800 people has a faulty copy of the BRCA1 or BRCA2 gene.<a href="#accordion">[1]</a>

It is also possible that these damaged copies of the BRCA1 or BRCA2 genes are inherited, increasing your chances of developing cancer, particularly <a href="merisehat.pk/disease/breast-cancer">breast cancer</a>. A child has a 50/50 chance of inheriting the mutation from either parent.

Hereditary cancers account for 5-10% of all cancers, with BRCA1 and BRCA2 accounting for nearly 50% of the genetic causes of inherited cancers.<a href="#accordion">[2][3]</a>&nbsp;But they are not the only ones. Other gene mutations, such as PALB2, PTEN, CHEK2, ATM, CDH1, and TP53, may also cause breast cancer, though they are less common.

Anyone can have these mutations. However, you are more likely to develop cancer due to harmful BRCA variants if you&rsquo;re a woman, while men are often just silent carriers.<a href="#accordion">[3]</a>&nbsp;Following a positive test, the likelihood of a woman being diagnosed with breast cancer at some point in her life increases from 12% to 87%.<a href="#accordion">[2]</a> 
&nbsp;

Understanding the relation of BRCA - Positive and Breast Cancer

Even though they occur rarely, both BRCA1 and BRCA2 genetic mutations increase an individual&rsquo;s vulnerability to developing certain types of cancer, including breast cancer, prostate cancer, pancreatic cancer, ovarian cancer, and melanoma.

A mutated BRCA1 gene, for instance, increases the risk of triple-negative breast cancer, an aggressive type of cancer.<a href="#accordion">[3]</a>&nbsp;In general, people with BRCA mutations may experience early-onset cancer in both breasts.<a href="#accordion">[5]</a>

A mutated BRCA1 gene in a man increases his risk of breast cancer by 1-5%, while a mutated BRCA2 gene increases that risk by 5-10%. This is notably higher when compared to the average man&#39;s 0.1% lifetime risk of developing breast cancer.<a href="#accordion">[4]</a>

There are no particular symptoms for a genetic mutation. But if the patient presents with certain risk factors, doctors may be able to suggest appropriate tests to help diagnose it. However, the BRCA test is not a routine test; an average risk doesn&rsquo;t warrant the BRCA gene test. It&rsquo;s not recommended that children under 18 especially undergo genetic testing for BRCA1 and BRCA2 variants.<a href="#accordion">[6]</a> 
&nbsp;

<h5>Important!</h5>

<ul>
	<li>If you and your doctor are thinking about genetic testing, you may benefit from genetic counseling as well. It will help you understand which genetic test options are best for you and what the results mean.</li>
	<li>A positive test means all blood relatives are at increased risk of having the variant themselves.</li>
	<li>A positive test, in rare cases, may not be due to an inherited variant. Rather, it may be a new variant.</li>
	<li>A positive test does not mean you&rsquo;ll definitely develop cancer.</li>
	<li>Remember that the results of genetic testing may be negative or uncertain as well. A negative result could mean that you do not have the mutation or that it is present but has not been detected. In these circumstances, your cancer risk remains similar to that of the general population. 
	&nbsp;</li>
</ul>

<h5>Screening Recommendations</h5>

If you have a risk factor, you should opt for regular screening after you turn 25 to be on the safe side. If you are diagnosed with a BRCA1 or BRCA2 mutation, your doctor will probably suggest annual breast MRIs. By the time you turn 30, they might also request mammograms.

It is advised that male BRCA carriers begin self-examinations of their breasts and begin annual clinical breast exams after turning 35 or as soon as they are diagnosed. Doctors may recommend mammograms depending on the patient&rsquo;s individual health. 
&nbsp;

Ideally, you should be tested if you or a relative have:

<ul>
	<li>Cancer in both breasts</li>
	<li>Metastatic prostate cancer</li>
	<li>Both breast and ovarian cancers</li>
	<li>History of male breast cancer</li>
	<li>History of two or more types of cancer</li>
	<li>History of BRCA mutation</li>
	<li>Recurring breast cancer</li>
	<li>Eastern or Central European (Ashkenazi Jewish) ancestry</li>
	<li>A history of breast cancer diagnosed before age 45</li>
	<li>A history of triple-negative breast cancer diagnosed at 60 or younger</li>
	<li>A history of ovarian cancer, fallopian tube cancer, or peritoneum cancer</li>
	<li>A history of pancreatic or prostate cancer, along with two or more relatives having BRCA-associated cancers</li>
	<li>A history of breast cancer diagnosed before 50, along with a second primary breast cancer, a family history of breast cancer, and a limited family medical history 
	&nbsp;</li>
</ul>

In most cases, you&#39;ll get to know the results of your BRCA test in a couple of weeks.

Knowing that you have a BRCA mutation can help you take steps to reduce your risk. It further helps other members of your family understand their own risks.

Additionally, you should speak with your child&#39;s pediatrician if you have tested positive for this genetic mutation. You might or might not get cancer, but you might pass the variant on to your offspring. While most cancers due to genetic mutations only affect adults, they may increase the risk of some childhood cancers. 
&nbsp;

Depending on your general health and other factors, your doctor might recommend one of the following strategies to lower your risk of developing cancer:

<ul>
	<li>Start screening earlier and more frequently because early detection of cancer makes it easier to treat it.</li>
	<li>Chemoprevention medicine, such as selective estrogen receptor modulators, as a nonsurgical alternative to treat estrogen receptor-positive breast cancer in postmenopausal women and prevent breast cancer in high-risk patients</li>
	<li>Preventive mastectomy or having the breasts removed even if they appear to be healthy</li>
	<li>Breast reconstruction after surgery (not necessary)</li>
	<li>Oophorectomy or the removal of the fallopian tubes and ovaries</li>
	<li>Making healthy lifestyle decisions, such as eating a balanced diet and exercising each day 
	&nbsp;</li>
</ul>

Note: Pay close attention to how your breasts normally feel and look. Inform your doctor immediately if you notice any changes. 
&nbsp;

Conclusion

Being BRCA-positive means that you have a mutation in one of the BRCA genes (BRCA1 or BRCA2). A BRCA gene mutation can increase your chances of developing breast cancer. It also increases the risk of an early onset of the disease.

However, it is essential to note that not everyone &mdash; men included &mdash; with a BRCA gene mutation will develop cancer. The presence of the mutation only indicates an increased risk compared to the general population. This is why it requires proactive monitoring and risk management to maintain your health.

[1] Casaubon JT, Kashyap S, Regan JP. BRCA1 and BRCA2 Mutations. [Updated 2022 Sep 19]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing

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