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BRCA1 & BRCA2 Genes Explained — What They Are, and What a Mutation Means

BRCA1 and BRCA2 are two genes that everyone carries — their normal job is to repair damaged DNA and protect against cancer. When one of them carries an inherited fault (a mutation), that protection is weakened, sharply raising the lifetime risk of breast and ovarian cancer. This is the most common cause of hereditary breast cancer. Knowing your BRCA status can change your screening, your prevention options and even your treatment. This page goes deeper into the biology than our practical BRCA gene test guide, which is the companion page on how testing actually works. At CION, a woman-led, tumour-board team helps you understand what a BRCA result means for you and your family.

  • Everyone has BRCA genes — they normally protect against cancer; the problem is an inherited fault that stops them working properly.
  • Much higher lifetime risk — a BRCA1 or BRCA2 mutation greatly raises the lifetime risk of breast and ovarian cancer, and can affect men too.
  • A 50% chance per child — the mutation is passed down: each child of a carrier has a 1-in-2 chance of inheriting it.
  • Free first consultation — A full 45-minute, woman-led, doctor-led consultation for all cancer patients — decisions for healing, not billing.
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What Are the BRCA1 and BRCA2 Genes?

BRCA1 and BRCA2 (short for BReast CAncer gene 1 and 2) are genes that every person has, inherited from both parents. Far from being "cancer genes", their normal role is the opposite: they are tumour suppressor genes that help repair damaged DNA and keep cell growth under control. When they work properly, they actively protect against cancer.

The problem arises when a person inherits a faulty copy — a mutation — in BRCA1 or BRCA2. With one repair gene already weakened from birth, cells are less able to fix the genetic damage that builds up over a lifetime, and cancer becomes much more likely. This is the most common cause of hereditary breast cancer, and it also raises the risk of ovarian and some other cancers. Importantly, only about 5–10% of all breast cancers are caused by inherited mutations like these — most breast cancer is not hereditary. If you want to know how testing is done in practice, our BRCA gene test page is the companion guide.

They normally protect you

BRCA1 and BRCA2 are DNA-repair (tumour suppressor) genes. Working copies guard against cancer — the risk comes from inheriting a faulty version.

Two genes, similar effect

Both BRCA1 and BRCA2 mutations sharply raise breast and ovarian cancer risk. They differ in some details — BRCA1 is more linked to triple-negative cancers, for example.

Only 5–10% of cases

Inherited mutations cause only a small minority of breast cancers. Most breast cancer is not hereditary — but where BRCA is involved, the implications are large.

Did you know?

A woman who carries a BRCA1 or BRCA2 mutation has a much higher lifetime risk of breast cancer than the general population — estimates commonly range from around 45% to 72% by age 70–80, depending on the gene and the study, compared with roughly 12% for an average woman. BRCA mutations also raise the risk of ovarian cancer substantially. Source: NCCN; published BRCA penetrance estimates.

The Cancers Linked To BRCA

How BRCA Mutations Raise Breast & Ovarian Cancer Risk

A BRCA mutation does not guarantee cancer, but it raises the lifetime risk well above average — and not only for breast cancer. The exact numbers vary between BRCA1 and BRCA2 and between studies, but the overall pattern is consistent. Understanding which cancers are involved is what makes targeted screening and prevention possible.

Breast cancer — much higher risk

Lifetime breast cancer risk for a carrier is commonly estimated at around 45–72% by age 70–80, versus roughly 12% for an average woman. Carriers also tend to develop breast cancer younger.

Ovarian cancer

BRCA mutations substantially raise the risk of ovarian (and fallopian tube) cancer — higher with BRCA1 than BRCA2. This is a major reason risk-reducing removal of the ovaries is discussed with carriers.

A second breast cancer

Carriers who have already had breast cancer are at notably higher risk of a new cancer in the other breast over time — which is why a BRCA result can influence surgery choices.

BRCA1 and triple-negative

BRCA1-related breast cancers are often triple-negative — a more aggressive subtype. This link is one reason every triple-negative patient is offered BRCA testing.

Other cancers (incl. in men)

BRCA2 in particular raises the risk of prostate and pancreatic cancer, and of male breast cancer. BRCA mutations affect men as well as women — and men can pass them on.

Risk is raised, not certain

A mutation increases the odds — it is not a diagnosis. Many carriers never develop cancer, and the point of knowing is to use screening and prevention to push the odds back down.

How It Runs In Families

How BRCA Mutations Are Inherited

BRCA mutations follow a clear inheritance pattern, and understanding it helps you and your relatives make sense of your family history. The mutation is passed down through families and does not skip generations in the way many people assume — which is why a family tree, not just a hunch, guides testing.

A 50% chance for each child

BRCA mutations are inherited in an "autosomal dominant" way: each child of a carrier has a 1-in-2 (50%) chance of inheriting the faulty gene, regardless of the child's sex.

It can come from either parent

A BRCA mutation can be inherited from your mother or your father. Because men carry these genes too, a strong cancer history on your father's side is just as relevant.

It does not skip generations

If you have inherited the mutation, you can pass it on; if you have not, you cannot pass it to your children. It may appear to "skip" a generation only because a carrier didn't develop cancer — the gene was still there.

Men matter too

Men can carry and transmit BRCA mutations, and BRCA2 raises their own risk of male breast cancer and prostate cancer. Don't overlook the male side of the family.

Who Should Consider Testing

Who Should Consider BRCA Testing?

Not everyone needs a BRCA test — testing is most useful when there are signs that an inherited mutation may be present. Guidelines point to specific features in your personal or family history. Testing always begins with genetic counselling, so you understand what a result will, and will not, tell you before you decide. The step-by-step practicalities are covered on our BRCA gene test page.

Breast cancer at a young age

A breast cancer diagnosis before about 45–50, or any triple-negative breast cancer before 60, is a recognised reason to be offered BRCA testing.

A strong family history

Several relatives with breast or ovarian cancer, especially diagnosed young or on the same side of the family, raises the chance that a BRCA mutation is running through your family.

Breast and ovarian cancer together

Breast and ovarian cancer in the same person, or in close relatives, is a classic pattern of hereditary breast and ovarian cancer syndrome and a strong indication for testing.

A known mutation in the family

If a relative has already tested positive for a specific BRCA mutation, you can be tested precisely for that change — a simpler, targeted test that tells you whether you inherited it.

Male breast cancer in the family

A male relative with breast cancer is an important clue to an inherited BRCA2 mutation and a reason to consider testing on that side of the family.

Why Choose CION

Understand Your BRCA Risk With CION

A BRCA conversation touches your treatment, your future health, and your family — so it deserves more than a quick test result handed over without explanation. CION is a woman-headed, tumour-board-led organisation that pairs genetic testing with real counselling, so you understand what your result means and what to do next.

Counselling before and afterWe provide genetic counselling so you understand the implications before testing, and we explain exactly what a positive, negative or uncertain result means afterwards.
A clear plan from a resultA BRCA result is only useful if it leads to action. We translate it into a concrete plan — enhanced screening, risk-reducing options, or BRCA-directed treatment — reviewed by a tumour board.
Support for the whole familyBecause a BRCA result affects relatives, we help you understand cascade testing — so at-risk family members can make their own informed choices.
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Have questions about breast cancer? Speak to a specialist.

Call the helpline or leave your details, and someone will help you arrange a consultation at the CION centre nearest you. One helpline serves every CION centre.

Call 1800 202 8726 Helpline open 24/7

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Woman-led, tumour-board-reviewed genetic counselling and BRCA care across 35+ centres in Telangana & AP. Call 1800-202-8726.

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A CION specialist can explain what your BRCA result means, outline your screening and risk-reducing options, and — if you have cancer — discuss BRCA-directed treatment. Your first consultation is free.

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Your Next Step

The CION BRCA Pathway + Free Consultation

Whether you are simply curious about your genes, have a strong family history, or have just received a BRCA result, you do not have to make sense of it alone. CION offers a clear, woman-led pathway from question to plan — counselling, testing and action — with your first consultation free.

1

Free 45-minute consultation

A specialist reviews your personal and family history, explains what BRCA1 and BRCA2 mean for you, and discusses whether testing is worthwhile — in plain language, without pressure.

2

Genetic counselling & testing

If testing is right for you, we provide genetic counselling before and after, and arrange the BRCA gene test — with up to 50% discounts on diagnostics.

3

Your result, turned into a plan

We explain exactly what your result means and, with the tumour board, build a plan — enhanced screening, risk-reducing options, or BRCA-directed treatment if you have cancer.

4

Support for your family

We help you understand cascade testing so at-risk relatives can make their own informed choices — and we stay available as your needs change over time.

Meet the Specialists

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Trained at AIIMS, Tata Memorial, and leading international centres. Combined 150+ years of experience. Every complex case is reviewed by 3+ of them — together.

Dr. Naresh Gundu
Medical Oncologist

Dr. Naresh Gundu

MBBS, DNB (Internal Medicine), DM (Medical Oncology)

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Dr. C. Raghavendra Reddy
Medical Oncologist

Dr. C. Raghavendra Reddy

MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)

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Dr. Bharati Devi Gorantla
Medical Oncologist

Dr. Bharati Devi Gorantla

MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)

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Dr. Owais Mohammed
Medical Oncologist

Dr. Owais Mohammed

MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)

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Dr. T. Raghavender Reddy
Medical Oncologist

Dr. T. Raghavender Reddy

MBBS, DM (Medical Oncology), MD (Radiation Oncology)

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Dr. N. Kiranmayee
Medical Oncologist

Dr. N. Kiranmayee

MBBS, DM (Medical Oncology), MD (Internal Medicine)

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Dr. Muralidhar Muddusetty
Surgical Oncologist

Dr. Muralidhar Muddusetty

MBBS (AIIMS), MS (Surgery) (AIIMS), DNB (Surgical Oncology), MRCS (Edinburgh)

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Dr. Raghavendra Naik
Surgical Oncologist

Dr. Raghavendra Naik

MBBS, MS (General Surgery), M.Ch (Surgical Oncology)

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Dr. Mohammed  Imaduddin
Surgical Oncologist

Dr. Mohammed Imaduddin

M.B.B.S, MS (General Surgery), M.Ch (Surgical Oncology)

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Dr. Vinay Mamidala
Surgical Oncologist

Dr. Vinay Mamidala

MBBS, MS(General Surgery), M.Ch(Surgical Oncology), FMAS, FARIS(Ongoing)

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Dr. Paila Gowri Naidu
Surgical Oncologist

Dr. Paila Gowri Naidu

MBBS, MS (General Surgery), M.Ch (Surgical Oncology), FMAS

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Dr. Venkata Sushma P
Radiation Oncologist

Dr. Venkata Sushma P

MBBS, MD (Radiation Oncology)

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Dr. Kirti Ranjan Mohanty
Radiation Oncologist

Dr. Kirti Ranjan Mohanty

MBBS, MD (Radiation Oncology)

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Dr. Gangadhar Vajrala
Radiation Oncologist

Dr. Gangadhar Vajrala

MBBS, MD (Radiation Oncology), MPH

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Dr. Basudev Pokhrel
Hematologist

Dr. Basudev Pokhrel

MBBS, M.D (Immunohematology & Blood Transfusion)

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Dr. Vajja Sandeep Kumar
Surgical Oncologist

Dr. Vajja Sandeep Kumar

MBBS, MS (General Surgery), DrNB (Surgical Oncology), FALS Oncology

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Dr. Sridhar Kamani
Surgical Oncologist

Dr. Sridhar Kamani

MBBS, MS (General Surgery), DrNB (Surgical Oncology)

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Addressed by landmark, because that is how this city navigates. Each centre also names the areas it serves, so you can place it without a map. Consultation and day-care Chemotherapy run at every one of them.

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Gajwel Husnabad Dubbaka
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X Roads, Pothreddipalle

Narayankhed Zaheerabad Patancheru

Talk to our team

Have questions about breast cancer? Speak to a specialist.

Call the helpline or leave your details, and someone will help you arrange a consultation at the CION centre nearest you. One helpline serves every CION centre.

Call 1800 202 8726 Helpline open 24/7

Request a call back

Share your number and a specialist's team will call you.

Free call back. Your details stay private.

Common questions

BRCA1 & BRCA2 — your questions answered

What are the BRCA1 and BRCA2 genes?

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are genes that everyone carries, inherited from both parents. Their normal job is protective: they are tumour suppressor genes that help repair damaged DNA and keep cell growth in check. The risk comes when a person inherits a faulty copy — a mutation — in one of them. With a repair gene already weakened from birth, cells are less able to fix the genetic damage that accumulates over life, so cancer becomes much more likely. A BRCA mutation is the most common cause of hereditary breast cancer and also raises the risk of ovarian and some other cancers. Only about 5–10% of all breast cancers are caused by such inherited mutations.

How much do BRCA mutations raise breast cancer risk?

Substantially. A woman who carries a harmful BRCA1 or BRCA2 mutation has a much higher lifetime risk of breast cancer than average — estimates commonly range from around 45% to 72% by age 70–80, depending on the gene and study, compared with roughly 12% for an average woman. Carriers also tend to develop breast cancer at a younger age, are at higher risk of a second breast cancer, and have a substantially raised risk of ovarian cancer. BRCA1 is more often linked to triple-negative breast cancer. Importantly, a mutation raises the odds but does not guarantee cancer — many carriers never develop it, which is why screening and prevention matter.

How are BRCA mutations inherited?

BRCA mutations are passed down in an autosomal dominant pattern. This means each child of a carrier has a 1-in-2 (50%) chance of inheriting the faulty gene, regardless of the child's sex. The mutation can be inherited from either your mother or your father — because men carry these genes too, a strong cancer history on the father's side is just as relevant. It does not truly skip generations: it may only appear to, if a carrier in between did not develop cancer. Men can carry and transmit BRCA mutations, and BRCA2 in particular raises a man's own risk of male breast cancer and prostate cancer.

Who should consider BRCA testing?

Testing is most useful when there are signs an inherited mutation may be present. Recognised reasons include: breast cancer diagnosed at a young age (before about 45–50), any triple-negative breast cancer before 60, a strong family history of breast or ovarian cancer (especially diagnosed young or on one side of the family), breast and ovarian cancer in the same person or close relatives, a male relative with breast cancer, or a known BRCA mutation already identified in a relative. Testing should always begin with genetic counselling so you understand what a result will and will not tell you. Our BRCA gene test page covers the practical steps; this page explains the genes themselves.

What does a positive BRCA result mean?

A positive result means a harmful BRCA1 or BRCA2 mutation has been found, so your cancer risk is higher than average. It is information, not a sentence — and it opens up powerful ways to manage risk. Carriers can choose enhanced screening (typically annual breast MRI plus mammography, often starting younger), risk-reducing options (endocrine medication, and surgery such as preventive mastectomy or removal of the ovaries and tubes), and — if you currently have BRCA-related cancer — BRCA-directed treatment with PARP-inhibitor tablets. None of these is forced; the right path is decided with you through counselling, and it can evolve over time. Many women start with intensive screening and consider surgery later.

How is this page different from the BRCA gene test page?

This page explains the biology and meaning of BRCA1 and BRCA2 in depth — what the genes do, how mutations raise breast and ovarian cancer risk, how the mutation is inherited, who should consider testing, what positive, negative and uncertain results mean, and the implications for your family. Our BRCA gene test page is the practical companion: it focuses on how to actually get tested — the process, the sample, the cost, what to expect, and how results are reported. If you want to understand what BRCA is and what a result means, start here. If you have decided you want to test and want to know how, the BRCA gene test page is the next step. Both work alongside genetic counselling.

Can a BRCA mutation affect my cancer treatment?

Yes. If you currently have breast cancer and are found to carry a BRCA1 or BRCA2 mutation, the result can directly change your treatment. It can make you eligible for targeted therapy with PARP-inhibitor tablets, which exploit the specific DNA-repair weakness in BRCA-mutated cancer cells — an option that is only available if your BRCA status is known. A positive result may also influence your surgery decision, because carriers have a higher risk of a future second breast cancer, which some women weigh when choosing between breast-conserving surgery and mastectomy. This is one reason guidelines recommend BRCA testing for people with triple-negative breast cancer and other higher-risk situations.

Does CION offer genetic counselling and a free first consultation?

Yes. CION offers a free first consultation for all cancer patients and for people who want to understand their inherited risk. In a full 45-minute consultation, a specialist reviews your personal and family history, explains what BRCA1 and BRCA2 mean for you, and discusses whether testing is worthwhile. We provide genetic counselling before and after testing, arrange the BRCA gene test with up to 50% discounts on diagnostics, and translate your result into a clear plan — enhanced screening, risk-reducing options, or BRCA-directed treatment — reviewed by a tumour board. We also help you understand cascade testing for relatives. You can book on 1800-202-8726 or request a callback through the form on this page.

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