Genetic testing (Lynch syndrome) questions

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Thatjackie
Posts: 1
Joined: Fri Dec 08, 2017 3:14 pm

Genetic testing (Lynch syndrome) questions

Postby Thatjackie » Fri Dec 08, 2017 4:49 pm

I’m hoping someone can help me get some clarification regarding Lynch Syndrome. I’ll give you some background first: both my grandmother and mother had colon cancer. My grandmother was 55, my mother was 43. We’ve always assumed it was hereditary. But my grandmother had genetic testing done while she was being treated for pancreatic cancer much later in 2013 for all of the colon related things using the colonext 17 gene panel (including lynch) and they were all negative. My question is this — if my grandmother tested negative for Lynch is it possible for my mom to test positive? (There are no instances of colon cancer on the other side of the family or the other cancers associated with Lynch Syndrome) It would mean my grandmothers colon cancer would just be a coincidence? Am I right in assuming the chances of that are pretty low? I know that it cannot skip generations. I ask because at 34 I just had my second colonoscopy as advised after the first found polyps and beforehand my dr launched into a rather passionate discussion suggesting or outright assuming really that I have Lynch Syndrome and will need a hysterectomy which has left me deeply disturbed. Both because the thought of that scares me of course but also because I found her bedside manner awful and inappropriate right before a procedure and because I repeatedly told her that my grandmother had been tested. She wants and has wanted my mother tested and seems to be treating me as if she is assuming I have it. I’m sure she wants me tested too but I don’t qualify. I told her before my FIRST colonoscopy that my grandmother came up negative. Also my mothers dr has never requested her to do the same tests as my grandmother and the write up on the genetic testing results for my grandmother did not say to do it. It said to do colonoscopies at the advised times as we have both been doing. The implication is that because my grandmother was negative for those my mother will be too, right? MY doctor seems to be thinking otherwise. Is somebody wrong?

Any input or experience with this would be greatly appreciated!! Thank you so much!

NHMike
Posts: 2555
Joined: Fri Jul 21, 2017 3:43 am

Re: Genetic testing (Lynch syndrome) questions

Postby NHMike » Fri Dec 08, 2017 6:31 pm

I think that testing for Microsatellite Instability High is standard for Colorectal cancer cases as it may imply Lynch and there are Immunotherapy Drugs if it's the case. This is done with ImmunoHistoChemistry testing and I believe that it's routinely covered by insurance for cancer patients. If cost is not an issue, then it's just a needle stick to get the test done. I personally hate needles but I've had so many needles stuck in my the past six months that I figure that it's just a rite of passage.

BTW, I'd agree with your overall analysis.

Do you have other options for doctors?
6/17: ER rectal bleeding; Colonoscopy
7/17: 3B rectal. T3N1bM0. 5.2 4.5 4.3 cm. Lymphs: 6 x 4 mm, 8 x 6, 5 x 5
7/17-9/17: Xeloda radiation
7/5: CEA 2.7; 8/16: 1.9; 11/30: 0.6; 12/20 1.4; 1/10 1.8; 1/31 2.2; 2/28 2.6; 4/10 2.8; 5/1 2.8; 5/29 3.2; 7/13 4.5; 8/9 2.8, 2/12 1.2
MSS, KRAS G12D
10/17: 2.7 2.2 1.6 cm (-90%). Lymphs: 3 x 3 mm (-62.5%), 4 x 3 (-75%), 5 x 3 (-40%). 5.1 CM from AV
10/17: LAR, Temp Ileostomy, Path Complete Response
CapeOx (8) 12/17-6/18
7/18: Reversal, Port Removal
2/19: Clean CT

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susie0915
Posts: 945
Joined: Wed Aug 02, 2017 8:17 am
Facebook Username: Susan DeGrazia Hostetter
Location: Michigan

Re: Genetic testing (Lynch syndrome) questions

Postby susie0915 » Fri Dec 08, 2017 6:37 pm

I was referred to genetics counselor. After meeting, I did not qualify for testing under payment from insurance. They did recommend doing color which they took care of but I paid out of pocket. It's about $250.00. Anyone can do it online, I just let the doctor handle it all and then they get the results as well. They test for many markers not just colon cancer. I thought it was worth it even though there is no family history. My kids will have to get early colonscopies because of me anyways.
58 yrs old Dx @ 55
5/15 DX T3N0MO
6/15 5 wks chemo/rad
7/15 sigmoidoscopy/only scar tissue left
8/15 PET scan NED
9/15 LAR
0/24 nodes
10/15 blockage. surgery,early ileo rev, c-diff inf :(
12/15 6 rds of xelox
5/16 CT lung scarring/inflammation
9/16 clear colonoscopy
4/17 C 4mm lung nod
10/17 pel/abd CT NED
11/17 CEA<.5
1/18 CT/Lung no change in 4mm nodule
5/18 CEA<.5, CT pel/abd/lung NED
11/18 CEA .6
5/19 CT NED, CEA <.5
10/19 Clear colonscopy
11/19 CEA <.5

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henry123
Posts: 218
Joined: Sun Oct 08, 2017 3:25 am

Re: Genetic testing (Lynch syndrome) questions

Postby henry123 » Sun Dec 17, 2017 6:53 pm

Hello
I am Lynch positive. I have been advised by Genetics Counsellor to get my siblings ( who are disease free so far) tested for Lynch. They are married with kids and leading normal lives with the usual ups and downs.
They are scared of reality and feel that if they test positive they will worry themselves to death as the Damocles sword would be hanging all the time of inevitable disease . They are ok with regular Colonoscopies etc. Another oncologist somewhat agrees with their thoughts. They are confused but would go with whatever I decide.
Has anybody been in a similar situation. What are pros and cons of either decisions.
Kindly advise.
46yo M msi-high Lynch +ve
5/16 lap AR 14/21 L nodes +ve
T4N2M1
7/16 Capox 9 cyc
9/16 cea 2
1/17 550
PET CT mets in lung & peri
iri+ avast fail
3/17 10577
4/17 regro fail
5/17 cea 28800
5/17 CT inc in size of mes nodes ,onset of multi nodules in liver
6/17 Opdivo start
7/17 26754
8/17 5623
9/17 497
10/17 52
CT all clear exc a nodule in Lung. liver norm
1/18 3.6
Aspirin start
6/18 1.5 CT clear
12/18 1.1 NED
1/20 NED Opdivo stop
8/23 1.0 All ok

KimT
Posts: 695
Joined: Sat Feb 20, 2010 8:53 pm

Re: Genetic testing (Lynch syndrome) questions

Postby KimT » Sun Dec 17, 2017 8:51 pm

henry123 wrote:Hello
I am Lynch positive. I have been advised by Genetics Counsellor to get my siblings ( who are disease free so far) tested for Lynch. They are married with kids and leading normal lives with the usual ups and downs.
They are scared of reality and feel that if they test positive they will worry themselves to death as the Damocles sword would be hanging all the time of inevitable disease . They are ok with regular Colonoscopies etc. Another oncologist somewhat agrees with their thoughts. They are confused but would go with whatever I decide.
Has anybody been in a similar situation. What are pros and cons of either decisions.
Kindly advise.


I’m Lynch positive. Since my diagnosis, 4 family members have also been diagnosed. The blessing in having lynch and knowing it is that while the incidence of cancer is higher than those without it, survivability is better due to early detection. It is imperative that those with lynch have yearly colonoscopies and for females to have hysterectomies by age 40. Without a diagnosis of lynch, their insurance companies will likely balk at paying for these things. In the absence of lynch, there is no need for frequent colonoscopies and prophylactic hysterectomies. Insurance companies do not want to pay for unnecessary testing so it is imperative that they be tested for lynch so they can have their testing if they have lynch. Early detection can be the difference between living and dying when it comes to cancer. I survived ovarian cancer. It was caught very early because we knew to look for it. If we weren’t looking for it, I wouldn’t be here. Ovarian cancer has almost zero symptoms until it metastasizes.
2/10 dx colon cancer
right hemicolectomy 3/19/10
Stage 2a 0/43 nodes
Lynch syndrome
3/14/10 colon resection/ removal of metal clips
Nov 11 dx ovarian cancer

rockhound
Posts: 113
Joined: Fri Jul 14, 2017 5:00 pm

Re: Genetic testing (Lynch syndrome) questions

Postby rockhound » Mon Dec 18, 2017 10:26 am

KimT wrote:
henry123 wrote:Hello
I am Lynch positive. I have been advised by Genetics Counsellor to get my siblings ( who are disease free so far) tested for Lynch. They are married with kids and leading normal lives with the usual ups and downs.
They are scared of reality and feel that if they test positive they will worry themselves to death as the Damocles sword would be hanging all the time of inevitable disease . They are ok with regular Colonoscopies etc. Another oncologist somewhat agrees with their thoughts. They are confused but would go with whatever I decide.
Has anybody been in a similar situation. What are pros and cons of either decisions.
Kindly advise.


I’m Lynch positive. Since my diagnosis, 4 family members have also been diagnosed. The blessing in having lynch and knowing it is that while the incidence of cancer is higher than those without it, survivability is better due to early detection. It is imperative that those with lynch have yearly colonoscopies and for females to have hysterectomies by age 40. Without a diagnosis of lynch, their insurance companies will likely balk at paying for these things. In the absence of lynch, there is no need for frequent colonoscopies and prophylactic hysterectomies. Insurance companies do not want to pay for unnecessary testing so it is imperative that they be tested for lynch so they can have their testing if they have lynch. Early detection can be the difference between living and dying when it comes to cancer. I survived ovarian cancer. It was caught very early because we knew to look for it. If we weren’t looking for it, I wouldn’t be here. Ovarian cancer has almost zero symptoms until it metastasizes.


Lynch positive here also. Immediate family members were also tested after my diagnosis and only my father tested positive (mid-70's, just a few colon polpys, nothing else so yes Lynch increases incidence of different cancers, it does not 100% equate to "you will get cancer"). I second what is written above- the early detection issues are the reason to get tested... Also, not all Lynch mutations have the same probabilities for cancer and/or different types of cancers. In my view (and that of immediate family), that was all good to know. All that trumped the "what if I get cancer because I'm Lynch positive" question. Way better, having gone through all the crap I've gone through, to get tested and go through detection procedures than the alternative...
45 yr old male
Diagnosed December 2016, age 41
Stage 1/IIA rectal cancer - T2/3N0M0 via MRI (MRI indicates stage 1; onc/surgeon = stage 2a)
Lynch syndrome, MSH6 mutation, MSI
2 to 3/2017 Xeloda + Radiation
5/10/17 - Robotic LAR with temp. loop illeostomy, 0/20 lymph nodes
6 to 7/2017 - Six cycles Folfox @ full strength
9/20/17 - Ileostomy takedown
10/17 - CT, NED
5/18 - CT, NED
11/18 - CT, NED
5/19 - CT, NED..moving to yearly CT scans
5/20 - CT, NED
5/21 - CT, NED (4 yr. scan)

User avatar
henry123
Posts: 218
Joined: Sun Oct 08, 2017 3:25 am

Re: Genetic testing (Lynch syndrome) questions

Postby henry123 » Tue Dec 19, 2017 5:27 am

Thanks for your advise . Have asked for test for my siblings and Aunt.

Also

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901118/

Interesting article on how and why 5FU does not work for Lynch and msi High CRC and why immunotherapy works.
46yo M msi-high Lynch +ve
5/16 lap AR 14/21 L nodes +ve
T4N2M1
7/16 Capox 9 cyc
9/16 cea 2
1/17 550
PET CT mets in lung & peri
iri+ avast fail
3/17 10577
4/17 regro fail
5/17 cea 28800
5/17 CT inc in size of mes nodes ,onset of multi nodules in liver
6/17 Opdivo start
7/17 26754
8/17 5623
9/17 497
10/17 52
CT all clear exc a nodule in Lung. liver norm
1/18 3.6
Aspirin start
6/18 1.5 CT clear
12/18 1.1 NED
1/20 NED Opdivo stop
8/23 1.0 All ok


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