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Genetic Testing

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

NBN mutation no longer a BC risk. WHAT?!
First my diagnosis was relatively botched. One doctor said HER2+, another triple negative. No consensus. Decision made to do chemo first then reassess to see if lumpectomy appropriate. During chemo I had genetic testing reveal NBN mutation which gave me up to a 30% higher risk of BC. Because of that risk assessment, I…
ATM, the new BRCA?
I was diagnosed with DCIS in February 2015. No breast cancer in my family, but multiple other ones, prostate, lungs, pancreas (father), bladder, throat. My genetic testing came back with this high risk for breast cancer due to a fairly new discovered gene mutation called ATM. Same gene is responsible with pancreatic…
Double mastectomy with PALB2 and early stage BC?
I got diagnosed with stage 2 est + BC last year and unfortunately my gene test of + PALB2 came after my 2nd lumpectomy to get clear margins. I've just finished chemo which was really hard on me and I have a very short window to decide whether I proceed with radiation or go on to have a full risk reducing mastectomy with…
Women With BRCA1 Gene Mutation Have Fewer Eggs in Ovaries
Women With BRCA1 Gene Mutation Have Fewer Eggs in Ovaries July 1, 2021 Women with a mutation in the BRCA1 gene likely have fewer eggs in their ovaries than the average woman, which may shorten their window of opportunity to have children. Read more...
Black Women and Rates of Genetic Mutations vs. White Women
Do Black Women Diagnosed With Breast Cancer Have Higher Rates of Genetic Mutations Than White Women? June 8, 2021 Black women and white women diagnosed with breast cancer have about the same rates of genetic mutations linked to a higher risk of breast cancer. Read more...
BC Risk Drops W/ Proph Salpingo-Oopherectomy in BRCA + Women
Breast Cancer Risk Drops Within 5 Years of Prophylactic Ovary and Fallopian Tube Removal in Women With BRCA Mutations March 11, 2021 Surgery to remove the healthy ovaries and fallopian tubes reduces the risk of breast cancer in women with a BRCA1 or BRCA2 mutation in the first 5 years after surgery. The age at which a…
Listing our BRCA mutations - maybe we can find matches
My idea is that we can use this topic to post our genetic mutation on the off chance that we can find someone else with the same mutation. I realize that this is a long shot because there are so many variations, but what the heck? I tried searching FORCE for mine with no luck. Here's my family's: BRCA2 - 2024del5

Genetic Testing

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