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other deleterious genes besides BRCA

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SagePatientAdvocates View Drop Down
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    Posted: Jan 25 2021 at 8:49pm
Dear TNBC family,

In 2004, my daughter was diagnosed with TNBC and both she and I were tested for the BRCA mutation and we both tested positive for the BRCA1 mutation. Ate that time BRCA was the only gene that was tested for and Myriad Genetics was the only place in town where a person could get tested. 

In the last 7 years especially there has been an explosion in testing options st a vastly reduced cost. There have been two large studies a number of gene mutations that have been identified that can predispose a person to develop breast cancer. 

On study was done by Dr. Fergus Couch, Mayo Clinic. His cohort was approx. 64,000 people, globally. One was done at Cambridge, UK and 113,000 people participated.

Six genes in addition to BRCA1 and BRCA2 were identified in the Couch study.

They are PALB2, ARD1, RAD51C, RAD51D, ATM, and CHEK2.

I have helped many women over the years and many felt relaxed when they tested 
BRCA1 or BRCA2 negative (a tiny group of people are BRCA1 and BRCA2 positive but that is extremely rare) because that had important consequences for their children. If neither parent has the mutation it cannot be passed to children. From my experience, generally the person with breast cancer gets genetically tested and unless her/his spouse has a substantial family history of breast/ovarian cancer the spouse does not get tested.

I am writing this post to reach out to those people who tested negative, solely, for a BRCA mutation and were never tested after that; and to those who were diagnosed with
breast cancer who have not had genetic testing. If possible I personally agree with the Breast Surgeons who feel that any woman/man with breast cancer should be offered genetic testing.

https://www.breastcancer.org/research-news/all-dx-w-bc-should-be-offered-genetic-testing#:~:text=Genetic%20testing%20should%20be%20made%20available%20to%20all%20patients%20with,may%20benefit%20from%20updated%20testing.

Also, if possible, in my opinion, every person with breast/ovarian cancer or at high familial risk should consult with a Certified Genetic Counselor (CGC) to see what test makes the most sense and also to help interpret the results and advise if certain mutations could be inherited by the person's children. Also at times a young woman or man finds out that s/he has a hereditary mutation and e.g., their parents have not had breast cancer. Well, the person with cancer got that mutation from mom or dad. It may be important for them to test, as well, again with the guidance of a CGC.

I recently spoke to a young woman with TNBC and I asked her if she had genetic testing and I was saddened to hear that her surgeon said "your mother didn't have breast cancer
so it's not necessary." The guidelines say that any woman with TNBC under the age of 60 should consider genetic testing, no matter family history.

And please consider getting tested for all the genes that may be involved not just BRCA.
And please rely on a CGC regarding your individual risk.

with my love to all here,

I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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123Donna View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Jan 26 2021 at 10:55am
Hi Steve,

Thanks for posting this very important information.  Over the years I've heard other women say they were negative for the BRCA gene so their breast cancer isn't hereditary.  Many times they'll say they were negative even though they have a family history of breast cancer.  Without testing for the full panel of genes, you really don't know if you have/had hereditary cancer.  I'm so glad I participated in the King Lab study back in 2011.  They have since found other genes associated with breast cancer so the science is still evolving.  There may be more genes added to the list in the future as they have more data to connect the dots.

I've always liked the chart that Color has on their website:


Another informative chart on the BROCA gene panel from the King Lab at the University of Washington:



Donna
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Jan 26 2021 at 11:58am
Steve,

Another observation I've seen over the years.  Some genes may be currently associated with certain types of hereditary cancers.  As researchers obtain more data by people getting tested, they are able to further their research.  The study of genetics is such a new field and the more data obtained, the better the analysis. The case in point are 2 genes associated with Lynch Syndrome (colon, ovarian):  PMS2 and MSH6.  If you had one of those 2 gene mutations, genetic counselors would discuss your colon and ovarian risks (not breast cancer).  In 2018 researchers discovered these 2 genes are also associated with breast cancer.  As data becomes available, more genes may be linked to higher risks of breast cancer.  On a side note:  I've noticed the charts for BROCA panel do not label these genes at a risk level for breast cancer so not sure why it hasn't been updated.


Two New Genetic Mutations Linked to Higher Risk of Breast Cancer

A study has found that mutations in the MSH6 and PMS2 genes are linked to higher-than-average breast cancer risk.

The research was published online on Jan. 18, 2018 by the journal Genetics in Medicine. Read MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

The MSH6 gene provides instructions for making a protein that helps repair DNA damage. Other studies have found that mutations in the MSH6 gene are linked to Lynch syndrome and a higher risk of ovarian cancer. Having Lynch syndrome increases the risk of many types of cancer, particularly colorectal, endometrial, ovarian, stomach, small intestine, liver, gallbladder, upper urinary tract, and brain.

The PMS2 gene also provides instructions for making a protein that helps repair DNA damage. Mutations in the PMS2 gene are also linked to Lynch syndrome and ovarian cancer.

Researchers have suspected that the genetic mutations linked to Lynch syndrome also were linked to breast cancer, but previous research results have been mixed.




Edited by 123Donna - Jan 26 2021 at 11:58am
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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Mary Anne K View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Mary Anne K Quote  Post ReplyReply Direct Link To This Post Posted: Apr 07 2021 at 9:12pm
I am having genetic testing and below are all the tests that are done. It was $250 and insurance covered $150. I don't have the results back, just wanted to provide some info. 

Panels and genes analyzed in your test

Invitae Breast Cancer Panel

Primary panel (14 genes)
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD50, STK11, TP53
Add-on Preliminary-evidence Genes for Breast Cancer (14 genes)
ABRAXAS1, AKT1, FANCC, FANCM, MRE11, MUTYH, PIK3CA, RAD51C, RAD51D, RECQL, RINT1, SDHB, SDHD, XRCC2

Invitae Multi-Cancer Panel

Primary panel (84 genes)
AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1

Invitae Prostate Cancer Panel

Primary panel (12 genes)
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53
Add-on Preliminary-evidence Genes for Prostate Cancer (7 genes)
ATR, BRIP1, FANCA, GEN1, PALB2, RAD51C, RAD51D

Invitae Colorectal Cancer Panel

Primary panel (20 genes)
APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Add-on Preliminary-evidence Genes for Colorectal Cancer (10 genes)
ATM, BLM, BUB1B, CEP57, ENG, FLCN, GALNT12, MLH3, RNF43, RPS20
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123Donna View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Apr 07 2021 at 10:55pm
Hi Mary Anne,

Did you take the Breast Cancer Panel test or the Multi-Cancer Panel (84 genes) test?
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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Post Options Post Options   Thanks (0) Thanks(0)   Quote Mary Anne K Quote  Post ReplyReply Direct Link To This Post Posted: Apr 08 2021 at 8:29am
My understanding is they are doing all of those tests. 
Also, they shipped the test to me and it's just a spit in a cup thing, with return label and all. Very easy. 
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123Donna View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Apr 08 2021 at 8:59am
Great!  Genetic testing is getting better and easier.
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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