Dec 4, 2019 06:29PM - edited Dec 4, 2019 06:30PM by hyphencollins

What led you to do testing?

When diagnosed at age 40 I was tested for brac 1/2 and was negative. I recently found out that a relative was positive for palb2 and my MO referred me for expanded testing so that she would know if there are additional cancers she should be screening me for.

What were the results and any choices made as a result?

I found out I have a pathogenic palb2 mutation and a vus rad51c (likely benign). The Dr who did the testing recommended MRCP pancreatic screening due to elevated risk of pancreatic cancer. I said ok and then did "research" (google) and found out it's probably not really worth screening...but the mrcp came back with some findings anyway. Dr says it's very unlikely to be cancer but will be doing EUS with possible biopsy because the pancreas is a "bad actor" so you want to make sure to get anything that could turn into cancer... in terms of breast cancer, I've already had a bilateral mastectomy and am taking anastrazole so not sure the palb2 will impact my treatment now.

Was payment an issue?

No, I was fortunate. Insurance fully covered.

Have you discussed the results with your family?

Yes. My kids are still young but will share when they are older so that they can make decisions around testing and screening.

What other suggestions would you have?

Not an issue for me because I already have a history of cancer but the genetics counselor did caution that results could potentially impact a person's ability to get insurance, so as unfair as that is, it may be worth looking into that first. Also be prepared for the geneticist to downplay likelihood of positive result even if you have a strong family history of cancer... I sort of felt talked down to about diet, exercise etc until she realized I had a personal history of breast cancer and a relative with a positive test...

May 19, 2020 05:57AM rah2464 wrote:

Cali I think you are a powerful, beautiful warrior!!! You made difficult choices to plan for your future and that takes such courage. I am sorry you have had such horrible complications beyond the emotional impact as you travel this path. Believe in yourself, keep pushing forward, I hope things get better very soon.

Jun 2, 2020 06:12PM CaliLove wrote:

Thank you. I'd love to hear from other women with Li Frauneni Syndrome and those that have had preventative mastectomies because of it. ♡

Jul 15, 2020 07:30PM ts542001 wrote:

i'm sorry that this is such a long post, i tried to be concise but wanted to include all the important facts and history.

i have recently decided to tell my story. i was first diagnosed with bilateral breast cancer in march 2001. dcis in one breast and stage one invasive ductal ca in other breast (er/pr+ her2-) i was 45 years old at the time, still considered on the young side for breast cancer.. my history at that time was my mother was diagnosed with breast cancer at age 43, stage 1, negative nodes at the time of diagnosis, but two years later had bone mets and died 10 years after initial breast cancer diagnosis. in addition my mothers sister had breast cancer IDC in her early 60's and 8 years later diagnosed with ILC that was discovered because of metastatic disease. She died a few weeks after my initial diagnosis in 2001. my family is Ashkenazi Jewish and of course with that history i went for genetic counseling and although the genetic counselor was sure i would be BRCA positive, but i wasnt. i was told at the time, they are sure i have a genetic cause of the cancer, but they just havent identified what the gene is yet. about 9 years ago my daughter was diagnosed with DCIS at age 32. a year later she had DCIS in her other breast. of course because of my daughters age they did full genetic testing on her, but all came back negative. genetic counseling suggested i come in again because lots of new genes have been identified and perhaps they will find one that they can identify as being responsible for my breast cancer. they were doing research on a bunch of different genes, i forget how many, but i told them i only wanted to be tested for genes that cause breast or ovarian cancer. (i have 3 daughters, including the one with the breast cancer and wanted to get as much info as i could for them). results come back and i was found to have Lynch Syndrome MSH 6 -a mismatch repair gene. Lynch is most often associated with colon cancer, and gastric cancer but there are other cancers it is responsible for including ovarian, uterine, kidney, bladder, pancreas and some others. At that time it was not thought that MSH 6 is Associated with breast cancer, but now they do consider it a risk factor for breast cancer. No one in my family had colon cancer or any other type of cancer, except for my fathers sister who died of a very aggressive pancreatic cancer (she died 2 week after diagnosis). my father was still alive and he agreed to be tested and he came back positive for lynch syndrome MSH6 - My father never had any of the cancers associated with MSH6 and he is now almost 90 and still has not had any of those cancers. his parents did not have any history of cancer and neither did any maternal and paternal aunts and uncles, of which there were 5 on his fathers side and 11 on mothers side.

i really didnt get anxious about the lynch syndrome, after all my father never had any cancer and in his family history there really was no other cancers. it was not known if my aunt (his sister) had MSH6 but she did have pancreatic cancer. also i already had my ovaries out because of the breast cancer, and subsequently had a hysterectomy as well, for uterine prolapse, so those two cancers i wasnt worried about. and at that time MSH6 wasnt felt to be a risk factor for breast cancer. as for colon cancer i was told to get a colonoscopy every 1-2 years and upper gi endoscopy every 2-3 years an thats what i was doing. i was also told to tell my siblings about the gene and to strongly advise them to get tested as well. neither of them ( my 2 brothers ) were tested. i was already considered high risk for breast cancer because of my personal and family history and my breast surgeon was sending me for mammogram every year alternating with MRI of breast 6 months after mammogram. last year around jan/feb 2019 i developed severe back pain, i already was diagnosed with spinal stenosis, so i thought the pain was from the the spinal stenosis getting worse, also in february 2019 i went for my yearly breast MRI and a suspicious lesion was found. biopsy was positive for IDC again. ER+PR-, HER2-. stage 1, grade 3. i also had micro invasion of sentinal lymph node, and lots of lympho vascular invasion. Oncotype was 28, which is in that "gray" area and given my history it was recommended to have chemo, but by that time my back pain was so severe that i would wake up at night and say to myself, this must be what metastatic disease in back feels like. MRI of back (because of the increase in pain) before i even started chemo showed multiple vertebrae with metastatic disease. i was given radiotherapy to a few of vertebrae that were the most affected. unfortunately most of the back pain did not resolve. i was started on letrozole and ibrance, i had continued back pain and after 4 months pet scan and repeat mri showed increase in mets in vertebrae and one area of metastatic disease that was starting to impinge on my spinal cord. had surgery to put in some rods and screws, because the vertebrae were full of cancer and they were afraid of them collapsing. i also had radiosurgery for the "leftover" breast cancer cells. genetic testing done on the pathology from that surgery showed, mismatch repair MSH6. i was taken off the letrozole and ibrance, they werent working anyway and started on keytruda, (immunotherapy.) fortunately, keytruda is like a miracle for me, after 5 treatments pet scan showed no active disease. had another pet scan 6 months later and i am still NAD. before i was started on keytruda i was told that my tumor was very aggressive, most likely from the mismatch repair/MSH6. So i actually have this breast cancer from my fathers side of the family. my first breast cancer, was likely to be from my mothers side.

story not over. if you will recall, my brothers did not go for genetic testing for lynch syndrome. last august 2019, only 6 months after my breast cancer diagnosis, one of my brothers was diagnosed with gastric cancer. his initial chemo didnt work, and his tumor also has the MSH6,mismatch repair. he too is on keytruda right now. after 6 months, his cancer is still present in stomach (less though), but no longer in liver and peritoneum. his onclolgist is very happy with how the keytruda is working on him and we are both continuing to get it.

so the take away lesson here is to follow up on genetic causes of cancer, they are finding more and more genes associated with breast and other cancers. and encourage family member to get tested as well. ( i had told my brothers several times to get tested, they chose to ignore me, as did my sister in law, who didnt seem to think it was very important). i dont know if my brothers cancer would have been found earlier, before mets to liver, but it may have, because he would have been paying more attention to his GI symptoms (which he told me he had for several months before he went for evaluation).

fortunately only one of my 3 daughters carries the MSH6 gene. she is already being monitored (she is now 32 years old). i'm not sure if she will opt to have a hysterectomy and oophorectomy when she finishes having her children. she will need to discuss with her genetic counselors. i know she has thought about bilateral mastectomy with reconstruction - probably in a few years.

i hope this all makes sense, please feel free to ask any questions.

terri

Jul 17, 2020 11:53AM lillyishere wrote:

Thank you for sharing SP. I just checked my report from Aug. 2019 when I was diagnosed with ILC and I paid out of my pocket to get tested for 84 gene mutations, all came back negative. I went back today after reading your post and it seems that in the list of 84 genes, MSH1, MSG2, MSG3, MSG6, PMS2 were tested. I have two kids and I want them to know what genes they get from my side. You are a wise Lady with lots of knowledge and experience and I appreciate sharing with us.