Any others with pathologic mutation of ATM gene?

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wifeandmom
Posts: 218
Joined: Fri Nov 12, 2010 1:12 pm

Any others with pathologic mutation of ATM gene?

Postby wifeandmom » Wed Oct 02, 2019 9:07 pm

When I was diagnosed with CRC 10 years ago at age 49, no genetic testing was offered because there was no family history of CRC. Fast forward 9 years to my younger sister being diagnosed with breast cancer at age 52. We do have some family history of breast cancer, so my sister did receive genetic testing. She (and subsequently I, too) was found to have a "pathogenic variant in ATM, Deletion (Exons 62-63)". Shortly afterward, I underwent risk reducing surgery to remove ovaries and tubes. Because of extensive adhesions from previous CRC related surgery, my surgeon had to take my uterus as well because the ovaries and tubes were basically fused to the uterus. Turns out to have been potentially life-saving as pathology discovered a small (stage 1a) but aggressive cancer in the uterus. If I had not known about the ATM mutation, that cancer may not have been found until too late.

Mutations of the ATM gene are currently considered to be associated with moderate increases in risk for developing several cancers, including CRC. I'm wondering if there are others here with the same mutation.

I also encourage anyone who has a genetic mutation to consider enrolling in the PROMPT registry at: http://promptstudy.info
According to their web site, "This online research registry for patients and their families helps researchers answer the question: “How do genetic variants affect your cancer risk?”" The founding research institutions are University of Pennsylvania Abramson Cancer Center, Dana Farber Cancer Institute, Mayo Clinic Cancer Center, and Memorial Sloan Kettering Cancer Center. The more information the researchers collect, the more they may be able to understand about and even help guide screening and treatment options.
Dx 4/09
Rectal CA T3 N0 M0
Neo-adj. rad/Xelox
Surgery 8/25/09 LAR, temp ileo
Reversal 10/09
Fistula
Surgery 12/21/09 temp ileo
ICU 12/30/09
8 rounds Xelox
Surgery 9/9/10 fix fistula, redo anastomosis
Reversal surgery 12/23/10
Hernia surgery 5/19/11
2018 Dx with radiation-induced Lumbosacral Plexopathy
ATM gene mutation
3/2019 Dx uterine carcinosarcoma Stage 1a

boxhill
Posts: 355
Joined: Fri Apr 06, 2018 11:40 am

Re: Any others with pathologic mutation of ATM gene?

Postby boxhill » Wed Oct 02, 2019 9:18 pm

I have an ATM mutation. I don't know which one precisely, I'll have to look it up. I was informed that it was associated with an increased chance of breast cancer by age 70, and that I should consider enhanced screening.

There is no history of breast cancer in our family, but on the other hand there was no CRC, until my sister and me. I've been trying to get my sister to get tested for ATM, since she has 4 daughters.

My PCP did refer me to a breast care group, but I need to follow up on that. Thanks for the reminder.
F, 64 at DX CRC Stage IV
3/17/18 blockage, r hemi
11 of 25 nodes,5 mesentery nodes
5mm liver met out
pT3 pN2b pM1
BRAF wild, KRAS G12D
dMMR, MSI-H
5/4/18 FOLFOX
Neulasta 6/28
7/9/18 CT NED
11/20/18 CT NED. Enlarged spleen.
12/20/18 Liver MRI 5mm liver met? and 2 lymph nodes in porta hepatis
12/31/18 Keytruda
6/5/19 Triphasic CT LN and spleen normal, Liver node stable
6/28/19 Pause Keytruda, predisone for joint pain
7/31/19 Restart Keytruda
9/10/19 CT stable

wifeandmom
Posts: 218
Joined: Fri Nov 12, 2010 1:12 pm

Re: Any others with pathologic mutation of ATM gene?

Postby wifeandmom » Thu Oct 03, 2019 9:48 am

Thank you so much for responding!

With my family's breast cancer history and the ATM mutation, the recommendation for me was to begin taking an aromatase inhibitor and having breast MRI and mammograms every year (at six month intervals; MRI, then six months later mammogram, then six months later MRI, etc.).
Dx 4/09
Rectal CA T3 N0 M0
Neo-adj. rad/Xelox
Surgery 8/25/09 LAR, temp ileo
Reversal 10/09
Fistula
Surgery 12/21/09 temp ileo
ICU 12/30/09
8 rounds Xelox
Surgery 9/9/10 fix fistula, redo anastomosis
Reversal surgery 12/23/10
Hernia surgery 5/19/11
2018 Dx with radiation-induced Lumbosacral Plexopathy
ATM gene mutation
3/2019 Dx uterine carcinosarcoma Stage 1a

Claudine
Posts: 131
Joined: Tue Mar 12, 2019 2:41 pm
Location: Montana

Re: Any others with pathologic mutation of ATM gene?

Postby Claudine » Fri Oct 04, 2019 9:57 am

The brother of a friend of mine is dealing with his 3rd cancer in about 12 years. Those are NOT recurrences of a single cancer - they're "completely different" cancers, and his docs tell him that they're unrelated. In this case, it would make so much more sense to have a genetic mutation that made one more susceptible to cancer! My feeling is that as research progresses, we will discover a lot along those lines - and start going after the mutation, instead of the specific type of cancer.
Wife of Dx 04/2018 (51 yo). MSS, KRAS mutated G12A
No primary, lytic tumor L4 vertebrae, CEA 10
Radiation 04/2018
Resection small intestine 05/18 (no cancer found - Crohn's)
Xelox * 6, 05/2018 to 10/2018
6.7 cm left adrenal mass 03/14/2019, 4.4 cm 05/21, 4.1 cm 09/16
SBRT L4 02/2019
Folfiri + Avastin
CEA since 03/15: 58, 17, 10, 6.4, 5, 4.8, 4.2, 3.6, 3.2, 3.3, 3.2, 3.7, 4.3, 4.2, 4.2, 5.0
Scan 03/14: Multiple small lung nodules
Scan 05/21: shrinking
Scan 09/16: lungs show no abnormalities (YAY!!!)


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