CION Cancer Clinics
Testing the family after a PALB2 result | CION Cancer Clinics
Once a PALB2 fault is found, your parents, brothers, sisters and adult children each have a one in two chance of carrying it. They can be tested for that exact fault with a simple single-site test. This page explains who to test first, why the men in your family count, how the process works and what each result means for a relative. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
On this page
- Who in the family should be tested once a PALB2 fault is found?
- Which relatives are offered the test, and why?
- How does family testing actually happen?
- What do the words on the letter mean?
- What does a relative's result change?
- What this page cannot tell you
- Four things families say about testing relatives
- Common questions about testing the family for PALB2
The short answer
Who in the family should be tested once a PALB2 fault is found?
Start with the closest adult relatives: parents, brothers, sisters and grown-up children. Each of them has a one in two chance of carrying the same fault. They are tested only for that exact fault, which is simpler than the first test and gives a clearer answer.
Why the exact fault matters
The first person in the family was tested across many genes. Relatives do not need that again. The laboratory looks at one spot in one gene, the spot where your fault sits. A relative who does not carry it can usually be told so with real confidence.
Why men are tested too
A PALB2 fault is passed down by fathers as often as by mothers. A brother or a son who carries it has a raised risk of his own, and he can pass it to his daughters. Families who test only the women miss half the picture.
What spreads out from there
Once a parent is found to carry the fault, testing moves to that parent's side of the family. Aunts, uncles and cousins on that side are offered the same single test. This step by step spread is called cascade testing.
A relative who tests negative for your family's fault does not need the scans that carriers are offered for PALB2.Relative by relative
Which relatives are offered the test, and why?
Testing follows the family tree outwards. The closest relatives come first because their chance of carrying the fault is highest.
Parents
One of your parents almost always passed the fault to you. Testing them shows which side of the family it came from, which tells you whose brothers, sisters and children to contact next.
Brothers and sisters
Each has an even chance of carrying the fault, whatever their sex and whether or not they have had cancer. Sisters gain the most from knowing, because breast checks may start earlier.
Adult children
Your sons and daughters each have a one in two chance. PALB2 risks begin in adult life, so testing usually waits until a child is grown up and can choose for themselves.
Usually waits for
- Adulthood and their own consent
- A counselling session of their own
- A time when a result would change something
Aunts, uncles and cousins
These are offered testing once you know which side the fault came from. Cousins on the other side of the family do not need testing for this fault at all.
Not sure whether this applies to you?
Ask an oncologistStep by step
How does family testing actually happen?
You share the result
Your counsellor gives you a family letter that names the gene and the exact fault. You pass it to relatives yourself. It can be forwarded on WhatsApp or printed and handed over.
The relative sees a counsellor
Each relative has their own session before testing. They talk through what a positive or negative answer would mean for them, and whether they want to know at all.
A blood or saliva sample
The sample is sent with your family letter so the laboratory knows exactly which spot to check. Relatives in a district can often give the sample at a centre nearer home.
The result session
The answer is given by the counsellor, not by a report through the post. A carrier leaves with a plan for checks. A non-carrier leaves knowing this fault is not theirs.
On the family letter
What do the words on the letter mean?
- Familial variant
- The exact fault found in your family. Relatives are tested for this one change and nothing else.
- Single-site test
- A test that checks only that one spot in the gene. It is quicker and usually cheaper than the full panel the first person had.
- Cascade testing
- Testing that moves outwards through the family, one generation and one branch at a time, starting from the first carrier.
- Carrier
- Someone who has the fault but may never develop cancer. A carrier is offered checks, not treatment.
- True negative
- A relative who does not carry the known family fault. Their risk from PALB2 is the same as anyone else's.
- Two faulty copies
- A child who inherits a PALB2 fault from both parents. This is rare and causes a serious childhood illness, not the adult risk described here.
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Side by side
What does a relative's result change?
Being straight with you
What this page cannot tell you
It cannot tell you what your specific variant means. That is a question for the counsellor who ordered the test. PALB2 faults differ, and risk also depends on how much breast cancer runs in your family.
It cannot decide who should be told
Every family is different. Some relatives want to know at once. Some do not want to know at all, and that is their right. A counsellor can help you plan who to tell and how to say it.
Who this does not apply to
If nobody in your family has had a PALB2 fault confirmed by a laboratory, this page is not about you yet. Relatives are not tested for PALB2 on family history alone. The first step is testing the relative who has had cancer.
Where cousin marriage comes in
If you and your partner are related, you may both carry the same fault. Your counsellor may suggest testing your partner before a pregnancy, because a child who inherits two faulty copies faces a serious illness.
Commonly believed
Four things families say about testing relatives
Men carry and pass on PALB2 faults just as women do. A father who carries it can pass it to a daughter, and a man has raised risks of his own, including breast cancer.
Feeling well tells you nothing about the gene. Most carriers are healthy when they are tested. That is the whole point of finding out early.
If you do not carry the family fault, you cannot pass it on. Your children do not need testing for it through your side of the family.
PALB2 risks start in adult life, and no checks begin in childhood. Testing a child takes away their chance to decide for themselves, so it usually waits.
Questions we are asked
Common questions about testing the family for PALB2
Do my relatives need the same big panel test I had?
No. Once your fault is known, relatives are tested only for that one change. This single-site test is quicker, usually cheaper and easier to interpret. Send your family letter with their sample so the laboratory knows exactly where to look.
Can my father have passed on a PALB2 fault?
Yes. The fault can come from either parent. A father may never have had cancer and still carry it. If your mother's side has no breast cancer, testing your father is often the sensible next step.
My relative lives in a district. Do they have to travel to Hyderabad?
Not always. Counselling can often be done by phone or video, and a sample can sometimes be collected at a centre closer to home. Ask your counsellor what is possible before your relative books a journey.
What if a relative refuses to be tested?
That is their choice to make. You can share the letter and the facts, and leave the door open. Many people come back to the question later, often after a life event such as marriage or a diagnosis in the family.
My relative tested negative. Are they completely clear?
They are clear of the PALB2 fault in your family. They still have the ordinary risk that everyone has. If there is a lot of cancer on their other side, their doctor may still advise some checks.
Should my partner be tested before we have children?
Usually not, unless you are related to each other or your partner's family has breast or pancreatic cancer. A child who inherits two faulty copies faces a serious illness, so this question matters most in cousin marriages. Raise it with your counsellor.
Do I have to tell my relatives about my result?
No law in India forces you to. Most people choose to, because the result could help a brother or sister catch a cancer early. Your counsellor can help you decide who to tell first and what to say.
Will a relative's result be shared with me?
Only if they choose to share it. Each relative's result belongs to them. They are the patient in their own session, and the counsellor will not pass it on without their consent.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- MedlinePlus Genetics — PALB2 gene
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
- NHS — Predictive genetic tests for cancer risk genes
- National Cancer Institute — Genetics of Breast and Gynecologic Cancers (PDQ)
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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