Steve,
Really good and helpful information. I've also learned that some mutations, like Lynch Syndrome for colon cancer, are now being identified as high risk for breast and gynecological cancers.
If someone is diagnosed with breast cancer, they should undergo a full genetic mutation panel, not just BRCA 1 & 2. They are finding many more genes associated with breast cancer.
A guide to gene analysis and risk:
https://www.color.com/learn/color-genes" rel="nofollow - https://www.color.com/learn/color-genes
https://testguide.labmed.uw.edu/public/view/BROCA" rel="nofollow - https://testguide.labmed.uw.edu/public/view/BROCA
The above links do not show the connection to lynch syndrome and breast cancer. Personally, the charts need to be updated to reflect new research.
Two New Genetic Mutations Linked to Higher Risk of Breast Cancer
Many inherited cases of breast cancer are associated with two genetic mutations: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two). But changes in other genes also are linked to 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 https://www.nature.com/articles/gim2017254" rel="nofollow - “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.
In this study, the researchers analyzed a database of information
from more than 50,000 women who had had multi-gene genetic testing for
hereditary cancer between 2013 and 2015. Of these women, 423 had a
mutation in one of the four genes linked to Lynch syndrome:
- 15.4% had a MLH1 mutation
- 22.2% had an MSH2 mutation
- 33.1% had an MSH6 mutation
- 29.3% had a PMS2 mutation
https://www.breastcancer.org/research-news/two-new-genetic-mutations-linked-to-bc" rel="nofollow - https://www.breastcancer.org/research-news/two-new-genetic-mutations-linked-to-bc
------------- 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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