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Topic: Father's results

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: Feb 10, 2020 02:21PM - edited Feb 10, 2020 03:16PM by kaynay

kaynay wrote:

Hello - These are not mine, but my father's, who died very soon after being diagnosed with pancreatic cancer last April. I have an appointment tomorrow for more tests (u/s, maybe biopsy) after the radiologist saw something "suspicious" at my annual mammogram - I have not been diagnosed with anything. I received my father's results of genetic testing today, but cannot make sense of anything. Does this mean anything to anyone, and how might this affect (if at all) my risk level?

Alteration % CfDNA or Amplification Associated FDA-approved therapies . Clinical trial availability (see page 3)

TP53 P27L 0.3% None Yes

KRAS G12D 0.1% None Yes

*

Varlants of Uncertain Significance EGFR A1118T (0.2%), FBXW7 G670E (0.1%) The functional consequences and clinical signiticance of alterations are unknown. Relevance of theraples targeting these alterations is uncertain..

Thank you.

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Feb 10, 2020 07:16PM MinusTwo wrote:

KayNay - pancreatic cancer is a totally different beast & I'm not familiar with the tests at all. Maybe your radiologist will know, but more likely they specialize in one area - like breasts.

2/15/11 BMX-DCIS 2SNB clear-TEs; 9/15/11-410gummies; 3/20/13 recurrance-5.5cm,mets to lymphs, Stage IIIB IDC ER/PRneg,HER2+; TCH/Perjeta/Neulasta x6; ALND 9/24/13 1/18 nodes 4.5cm; AC chemo 10/30/13 x3; herceptin again; Rads Feb2014
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Feb 11, 2020 06:13PM ShetlandPony wrote:

Kaynay, I am so sorry for your loss.

It looks Iike these results may be from a liquid biopsy (blood test) to find out the genomic characteristics of your father’s tumor. Is that right? Such a test is different from genetic testing to look for inherited mutations that predispose a person to cancer. However, such a germline (whole body) mutation will show up in a tumor as well, and genetic testing can show if the mutation is germline or just in the tumor (somatic).

The radiologist is not the person to ask. Please get an appointment with a cancer genetics specialist to see if you should have genetic testing. Other doctors are seldom knowledgeable enough. That TP53 could be significant for more than one type of cancer, I believe, but I am not a specialist. If you do have any genetic predisposition to cancer, you can get more screening and maybe take other steps to help yourself.

2011 Stage I ILC 1.5cm grade1 ITCs sn Lumpectomy,radiation,tamoxifen. 2014 Stage IV ILC mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD
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Feb 12, 2020 01:03AM Traveltext wrote:

Welcome kaynay. You need a genetic counsellor to unravel this, as MT and SP suggest. Those genes are not so familiar to breast cancer people. What I did notice was:

“Variants of Uncertain Significance EGFR A1118T (0.2%), FBXW7 G670E (0.1%) The functional consequences and clinical signiticance of alterations are unknown. Relevance of theraples targeting these alterations is uncertain.

I am BRCA1 with Varlants of Uncertain Significance (VUS).

A VUS determination is unfortunate because clinical decisions can’t be formulated. The result is classified as ambivalent.

If you get genetic testing and inherit your dad’s genes, you may be none the wiser.

Keep us posted on your mammogram results.


NED breast and prostate cancer. More on Male BC

Dx 03/14, IBC, Lgth. 2cm, Stge IIIB, Gde 2B, ER+/PR+, HER2- ; FEC x3, Taxol x3; Mx & 2/23 nodes; Rads x 33; now on tamoxofin.

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Feb 12, 2020 08:16AM ShetlandPony wrote:

The four genes referenced appear to be not her dad’s genes, but her dad’s tumor’s genes. Two of them are not VUS, but known pathogenic genes, and my point was to see if either of those are also germline, ie inherited from dad and not just in the tumor. TP53 is an important gene for many cancers, so I think it would be important to know if this was inherited.

2011 Stage I ILC 1.5cm grade1 ITCs sn Lumpectomy,radiation,tamoxifen. 2014 Stage IV ILC mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD

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