I have the PALB2 gene but both parents tested negative

CoralClouds

Very confused. I have the PALB2 gene and it was found due to genetic testing due to an occurrence with breast cancer. My parents, however, tested negative for the gene. What does this mean?

exbrnxgrl

CoralClouds, I don’t know anything about that gene mutation but I do know that some mutations arise spontaneously.

moth

So, the first thing to clarify is that everyone has the PALB2 gene (just like we all have the BRCA1 and BRCA2 genes etc). It's whether we have a *mutation* in those genes that's the issue.

& yes , like exbrnxgrl said, some mutations are germline & others are somatic: "Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are affected)

Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will be affected)"

This study reports that just over 1% of PALB2 invasive breast carcinoma mutations were somatic https://www.frontiersin.org/articles/10.3389/fgene...

The other possibility is one that was discovered by many after giving family members Ancestry etc kits as Christmas presents. Fathers aren't always the fathers. Occasionally mothers weren't the mothers either.

Have you spoken with a genetics counsellor? They should advise you further about implications of your test result.

hnsquared

hello coral clouds.....I also did genetic testing and found out I have the PALB2 genetic mutation. I can’t answer your question but I encourage you to meet with a genetic counselor. After receiving my results I met with the genetic counselor at my breast cancer center and it was so helpful. My parents are deceased so I will never know if either of them had the mutation but it was helpful in understanding how the genetics work. Plus I have a sister and the counselor explained how she could have testing for free. It was very helpful and the counselor will probably be able to answer all your questions.

Heather

keivan

hi

I am a cancer genetic counsellor. It is important to know what sort of mutation do you have in your palb2 gene. Some mutations are not important at all.