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Topic: I have the PALB2 gene but both parents tested negative

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Oct 15, 2020 07:17PM

CoralClouds wrote:

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?

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Oct 15, 2020 07:32PM exbrnxgrl wrote:

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

Bilateral mx 9/7/11 with one step ns reconstruction. As of 11/21/11, 2cm met to upper left femur Dx 7/8/2011, IDC, Left, 4cm, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Surgery 9/7/2011 Lymph node removal: Left; Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Dx 11/2011, IDC, Left, 4cm, Stage IV, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Hormonal Therapy 11/21/2011 Arimidex (anastrozole) Radiation Therapy 11/21/2011 Bone Hormonal Therapy 6/19/2014 Femara (letrozole) Hormonal Therapy Aromasin (exemestane)
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Oct 15, 2020 08:11PM - edited Oct 15, 2020 08:11PM by 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

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.

Initial dx at 50. Seriously???? “Sometimes the future changes quickly and completely and we’re left with only the choice of what to do next." blog: nevertellmetheodds2017.tumblr.... Dx 12/2017, IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER-/PR-, HER2- (IHC) Surgery 12/12/2017 Lumpectomy: Left; Lymph node removal: Sentinel Chemotherapy 2/14/2018 AC + T (Taxol) Radiation Therapy 8/13/2018 Whole-breast: Breast Dx 2/2020, IDC, Stage IV, metastasized to liver/lungs, Grade 3, ER-/PR-, HER2- Chemotherapy 3/18/2020 Taxol (paclitaxel) Immunotherapy 3/18/2020 Tecentriq (atezolizumab)
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Oct 18, 2020 08:22PM hnsquared wrote:

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.


Dx 2/20/2020, IDC, Left, Grade 2, ER+/PR+, HER2- Chemotherapy 3/31/2020 AC + T (Taxol) Surgery Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right)
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Oct 23, 2020 05:52AM keivan wrote:


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.

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