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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 23 2018 at 9:07pm
Natalie,

Two new breast cancer genes emerge from Lynch syndrome gene study

Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast cancer by age 60.

The study, in collaboration with GeneDx, a genetic testing company, was published online today in Genetics in Medicine.

The two genes were previously known to cause Lynch syndrome, an inherited condition that raises the risk of colorectal, ovarian, stomach, and endometrial cancer. Lynch syndrome is the most common inherited cause of colorectal cancer, accounting for about 3 percent of newly diagnosed cases. One in 440 Americans has a gene variant that causes Lynch syndrome.

Researchers had suspected that Lynch syndrome genes may also cause breast cancer. Some studies had found a link, whereas others had not.

"People with Lynch syndrome aren't thinking they may also be at risk for breast cancer," said Wendy Chung, MD, PhD, the Kennedy Family professor of pediatrics (in medicine) at Columbia University Irving Medical Center, clinical geneticist at NewYork-Presbyterian/Columbia, and the study's senior author. "Given the fact that genomic analysis is becoming more common in patients with a personal or family history of cancer, we have an opportunity to do more targeted breast cancer screening in women who carry any of the genes associated with risk for this disease."

The researchers analyzed a database of more than 50,000 women who had undergone multi-gene hereditary cancer testing between 2013 and 2015. Of these, 423 women had a mutation in one of the four genes that cause Lynch syndrome: MLH1, MSH2, MSH6, and PMS2.

Additional analyses revealed that women with a mutation in two specific Lynch syndrome genes—MSH6 and PMS2—had a two-fold higher risk of breast cancer compared to women in the general population.

Based on the incidence of cancer in the study population, the researchers calculated that about 31 to 38 percent of women with cancer-causing MSH6 and PMS2 variants will develop breast cancer, compared to around 15 percent of women in the general population.

"The new study suggests MSH6 and PMS2 should be added to the list of genes to screen for when there is a history of breast cancer," said Dr. Chung, who is also director of the clinical genetics program at NewYork-Presbyterian/Columbia. "Screening for these genes also would give these families potentially life-saving information to prevent colon cancer by encouraging individuals with the genes to increase the frequency of their colonoscopies."

Currently, testing for Lynch syndrome genes is generally only done when someone has a personal or family history of colon or uterine cancer.

https://m.medicalxpress.com/news/2018-01-breast-cancer-genes-emerge-lynch.html

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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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 23 2018 at 9:10pm
Natalie,

You can ask if they tested you for Lynch Syndrome.  If positive for a mutation, they may recommend frequent colonoscopies (every 1 to 2 years).  Colonoscopies would be preventative.  Also, they may recommend a preventative hysterectomy since there is a link to some gynecological cancers.



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 Natalie Quote  Post ReplyReply Direct Link To This Post Posted: Jan 23 2018 at 9:40pm
Thank you very much Donna.
I have the link and will be sharing with my oncologist, I will call and make appointment in near future to investigate further.
If I weren't tested it may be a hard sale since the testing is usually done on those with colon or uterine cancers (mine was precancerous), and also the fact that I now only have NYS Medicaid.
Thank you again, you have been a wonderful resource for all of us.
Natalie
TNBC stage1 size 1.8, grade3 no nodes 4/11 Lumpectomy 5/11 4cycles DD A/C 4cycles DD Taxol. Double Mastectomy 12/11 BRCA all neg
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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 23 2018 at 10:38pm
Natalie,

You are so welcome and I hope you can get some answers.  There is a genetic test that is very affordable, called Color Genetic Testing.  There have been some threads talking about this expansive test that is very affordable.  The test costs $249.


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 Falcon Quote  Post ReplyReply Direct Link To This Post Posted: Jan 24 2018 at 2:49pm
Sister was dx at age 32 will now be 67 this February!

Daugher was dx at age 32 will be 41 this March!
My daughter Jessica
Treated and Healed!!!!!
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Post Options Post Options   Thanks (1) Thanks(1)   Quote kmartin Quote  Post ReplyReply Direct Link To This Post Posted: Feb 09 2018 at 9:09pm
Dear All,

All day I have been thinking about the best way to commemorate the 10 year anniversary of me finding my breast cancer, and 3 weeks later hearing "you have triple negative breast cancer."

I  am well, and often forget that I went through the grueling 8 months of treatments..that did land me in the hospital for 8 days (after round 3 of TAC)....but, I'm hear to say it was all worth it!!!

I have lived to:

Celebrate 35 years of marriage
See both sons graduate from college - one now with a doctorate
Continue to work as a nurse
Enjoy music ~ especially bluegrass : )
...and so much more

Hang in there, and if you were lucky enough to find your cancer early, thank God/your lucky stars/the Universe....

Love to all,

Kathy



Found Lump, 2/8/08
Bx IDC, Stage 2, Grade 3, TN
Lumpectomy, axillary node dissection 3/11/08
4/33 positive nodes
TAC x 4, AC x 1
RT x 33-finished 10/14/08
BRCA 1 & 2 Negative
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Falcon Quote  Post ReplyReply Direct Link To This Post Posted: Feb 12 2018 at 7:22pm

My sister is now over 20 years a BRCA1 survivor and my daughter is also BRCA1 survivor for 8 years.


My daughter Jessica
Treated and Healed!!!!!
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Feb 12 2018 at 8:59pm
Thanks for the wonderful update Falcon!!!!!

hugs and love,

Steve
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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Post Options Post Options   Thanks (0) Thanks(0)   Quote vickyann Quote  Post ReplyReply Direct Link To This Post Posted: Feb 13 2018 at 8:57pm
I remember like it was yesterday finishing Chemo and the fear of cancer returning.
If I went to a movie they would advertising a Christmas or summer blockbuster and I would wonder if I would be alive. It is very scary. Everyone has supported you thru chemo and everyone thinks....yeah it’s over..... The fear is just beginning for you. Let me add you have been sick and haven’t been thinking about the future. Your only thought is getting thru chemo....

NOW for the good news...... Hakuna Mata the kids movie..it means no worries for the rest of your life.... in other words..worrying is a waste of time..... if it’s 3 years you have ahead or 50. Don’t use your days in fear. Be happy, positive, and you will feel better....trust me...
I am an 11 year TNBC survivor.
Vickyann
Dx Christmas/07
Stage2 Grade 3
no nodule braca neg
lung nodule no growth
TAC x 6 no rad
finished chemo June 08 reconstruction 12/09
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