BRCA & Lynch Syndrome Genetic Testing

The short answer: Some ovarian, womb (uterine or endometrial) and breast cancers run in families because of an inherited gene change, most often in the BRCA1 or BRCA2 genes or in one of the Lynch syndrome genes. A genetic test, usually a simple blood or saliva sample, can look for these changes. It is recommended for every woman with ovarian, fallopian tube or peritoneal cancer, and for some women with womb cancer or a strong family history. A positive result is not a cancer diagnosis: it means a higher risk, and there are good ways to lower that risk. Testing works best with genetic counselling before and after. In Hindi people often ask kya cancer khandani hota hai (क्या कैंसर खानदानी होता है) or BRCA test kya hota hai (बीआरसीए टेस्ट क्या होता है).

What does “hereditary cancer” mean?

Genes are the body’s instructions. BRCA1, BRCA2 and the Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2 and EPCAM) normally help cells repair damage to their DNA. Some people are born with a change (also called a mutation or variant) in one copy of these genes, passed down from their mother or their father. Because the change is present in every cell from birth, cells find it harder to repair damage, and cancer becomes more likely, sometimes at a younger age.

Most women’s cancers are not inherited. About 1 in 5 ovarian cancers is linked to an inherited gene change, most often BRCA1, BRCA2 or Lynch syndrome. For womb cancer the share is smaller: roughly 3–5 in 100 (about 1 in 20 or fewer) are linked to Lynch syndrome.

Two kinds of test are sometimes confused:

Inherited (germline) testing uses blood or saliva and looks for a gene change you were born with, which relatives may share.
Tumour testing is done on the cancer tissue after a biopsy or operation. It can find gene changes that are only in the cancer. If a tumour test finds a BRCA or Lynch-type change, a blood test is usually needed to check whether it is inherited.

Who should consider genetic testing?

Testing is usually offered in these situations. Your doctor will look at your family on both sides.

If you have had cancer:

Ovarian, fallopian tube or primary peritoneal cancer of the common (epithelial) type, at any age, even with no family history. Read more on our ovarian cancer page.
Womb (endometrial) cancer, when tests on the tumour suggest Lynch syndrome (mismatch repair, or MMR, deficiency that is not explained by other changes), when diagnosed under 50, or when there is a family history of womb or bowel cancer.
Breast cancer at a young age, “triple-negative” breast cancer, cancer in both breasts, or breast cancer with ovarian cancer in the family.

If you have not had cancer:

A relative already has a known BRCA or Lynch gene change.
A close relative (mother, sister, daughter) had ovarian or fallopian tube cancer.
Several relatives on the same side of the family had breast, ovarian, pancreatic or prostate cancer, especially at a young age, or a man in the family had breast cancer.
Several relatives had bowel or womb cancer, especially under 50.

When possible, it is usually best to test a relative who has had cancer first, because that gives the clearest answer for everyone else.

BRCA1 and BRCA2: what they mean for ovarian, womb and breast cancer

Ovarian, fallopian tube and peritoneal cancer: the lifetime risk is much higher than average, more so with BRCA1 than BRCA2. With BRCA1 the risk usually starts to rise earlier (from about the 40s) than with BRCA2. Many of these cancers are now thought to start in the fallopian tube, which is explained in our article on fallopian tube cancer and the BRCA connection.
Breast cancer: the risk is also much higher than average. Breast checks and risk-reducing choices are planned with a breast specialist.
Womb cancer: BRCA changes are not a major cause of the usual type of womb cancer. Some studies suggest a small rise in a rarer type with BRCA1, but the evidence is not settled; this may be discussed when surgery is being planned.
Men can carry and pass on BRCA changes too, and have higher risks of breast, prostate and pancreatic cancer.

For women who already have ovarian cancer, a BRCA result also guides treatment: cancers with a BRCA change often respond better to platinum chemotherapy and to tablets called PARP inhibitors. Our page on PARP inhibitor maintenance explains how BRCA and HRD results are used.

Lynch syndrome: what it means for womb, bowel and ovarian cancer

Womb (endometrial) cancer and bowel cancer are the two main risks. In many women with Lynch syndrome, womb cancer is the first cancer to appear, which is why it can act as a warning for the whole family.
Ovarian cancer risk is also raised, though usually less than with BRCA1.
Other cancers, such as stomach, urinary tract, small bowel, pancreas and bile duct cancer, are also more common.
Breast cancer is not one of the main Lynch syndrome cancers; any effect on breast risk is small and uncertain, so breast checks usually follow your family history.
The level of risk depends on which gene is affected: changes in MLH1 and MSH2 usually carry higher risks than changes in MSH6 or PMS2.

Every womb cancer removed at surgery is now usually tested for MMR proteins. This helps flag Lynch syndrome and can also guide treatment, including immunotherapy in some advanced cases. Our endometrial cancer page explains these tumour tests and when blood testing for Lynch syndrome follows.

What happens if your result is positive?

A positive result can feel frightening, but it gives you time and choices. Nothing has to be decided on the day you get the report. A genetic counsellor and your specialist will explain what your particular gene change means and help you plan step by step. Depending on the gene, your age and whether you still want children, the options may include:

For the ovaries and fallopian tubes (BRCA, and some Lynch genes): there is no reliable screening test that finds ovarian cancer early enough. The most effective way to lower the risk is an operation to remove both ovaries and fallopian tubes, called risk-reducing salpingo-oophorectomy (RRSO). Guidelines usually suggest it around age 35–40 for BRCA1 carriers and 40–45 for BRCA2 carriers, once childbearing is complete. It is usually done as keyhole (laparoscopic) surgery. If it is done before natural menopause, it brings on menopause; hormone replacement therapy (HRT) is usually possible until the natural age of menopause for women who have not had breast cancer. For some younger women, removing the tubes first and the ovaries later is an option still being studied. Our fallopian tube cancer page covers RRSO timing and this tube-first approach in more detail.

For the womb and bowel (Lynch syndrome): report any unusual bleeding (between periods, very heavy, or after menopause) promptly, because womb cancer found this way is often at an early stage. Regular colonoscopy, often every 1–2 years with a starting age that depends on the gene, is arranged with a gastroenterologist. Once your family is complete, an operation to remove the womb, and usually the tubes and ovaries, may be offered to lower the risk of womb and ovarian cancer; the best timing depends on the gene and your age.

For the breasts (BRCA): breast checks usually start earlier and are more frequent, often with MRI and mammography, and risk-reducing options are discussed with a breast specialist.

Each option has benefits and downsides, and it is reasonable to take time and bring family members to the discussion.

Testing your family (cascade testing)

If you carry a gene change, each of your children, brothers, sisters and parents has a 1 in 2 chance of carrying the same change. Men can carry it and pass it on, so brothers and sons matter too. Relatives are tested only for the specific change found in the family, which gives a clear yes-or-no answer. Testing for these adult-onset cancer genes is usually offered from age 18, when a young person can decide for themselves.

A relative who does not carry the family’s gene change has not inherited that higher risk, and cannot pass it on to their children. A genetic counsellor can help you plan how to tell relatives.

What does a negative or uncertain result mean?

Negative, when a family gene change is already known: if you test negative for that specific change, you have not inherited it. This is called a true negative.
Negative, when no gene change has been found in the family: this is reassuring but not complete. The family may carry a change in a gene that current tests do not find, so your family history still guides checks and advice.
Variant of uncertain significance (VUS): the lab found a change but does not yet know whether it raises cancer risk. Most VUS results turn out to be harmless when more is learned. A VUS should not, on its own, be used to make decisions such as surgery; care is planned on your personal and family history, and the lab may update the result later.

How is genetic testing done?

The test is a blood sample or a saliva sample. Most labs now use a panel that checks several genes at once, including BRCA1, BRCA2, the Lynch genes and some other ovarian cancer genes such as RAD51C, RAD51D, BRIP1 and PALB2. Before the test, counselling explains what it can and cannot show and what a result could mean for your relatives. After the test, the result is explained in plain words, with a written plan. Costs and insurance cover vary by lab and policy, so ask before testing.

Dr. Nishtha Tripathi Patel is an ESGO-certified gynaecological oncologist in Ahmedabad. She can help arrange genetic testing and counselling, explain what a BRCA or Lynch result means for you and your family, and discuss risk-reducing surgery where it is appropriate. If you already have a report and want another view, a second opinion can help.

If ovarian, womb or breast cancer runs in your family, or you have a genetic test result you would like explained, you can book a consultation with Dr. Nishtha in Ahmedabad or by video. Bring any genetic or tumour test reports and a note of which relatives had cancer, and at what age.

FAQs

What is a BRCA test and what does it tell you?

A BRCA test is a blood or saliva test that looks for an inherited change in the BRCA1 or BRCA2 genes. These genes normally help repair damaged DNA. A change in one of them raises the risk of ovarian, fallopian tube and breast cancer, and in men of breast, prostate and pancreatic cancer.

Who should get a BRCA test?

Testing is recommended for every woman with ovarian, fallopian tube or primary peritoneal cancer, even without a family history. It is also offered to people with a known gene change in the family, a close relative with ovarian cancer, several relatives on one side with breast, ovarian, pancreatic or prostate cancer, or breast cancer at a young age. A genetic counsellor can check whether you qualify.

What does BRCA positive mean? Will I definitely get cancer?

No. BRCA positive means you carry a gene change that raises your risk of certain cancers; it is not a cancer diagnosis, and many carriers never develop cancer. It gives you the chance to lower the risk, for example with closer breast checks and, once your family is complete, an operation to remove the ovaries and fallopian tubes. Your specialist will explain the options that suit your age and plans.

Can a cancer gene change come from my father’s side?

Yes. BRCA and Lynch syndrome gene changes can be passed down from either parent, so a father can pass on a change even if he never had cancer himself. When your doctor asks about family history, include relatives on your father’s side, and men with breast, prostate or pancreatic cancer.

What is a variant of uncertain significance (VUS)?

A VUS is a gene change that the lab cannot yet classify as harmful or harmless, because not enough is known about it. Most VUS results are later found to be harmless. A VUS on its own should not lead to decisions such as surgery; your care is planned on your personal and family history, and the lab may update the result as knowledge improves.

Is womb (uterine) cancer hereditary?

Usually not. Most womb cancers are linked to hormones, weight and age rather than inherited genes. A small share, roughly 3–5 in 100, is linked to Lynch syndrome. Testing is considered if tests on the tumour suggest Lynch syndrome, if the cancer was found before 50, or if several relatives have had womb or bowel cancer.

Genetic Testing for Women’s Cancers: BRCA and Lynch Syndrome Explained

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