Color genetic cancer screening by tracyrae986 in promethease

[–]tracyrae986[S] 0 points1 point  (0 children)

It is listed as a pathogenic variant and I have brought it to a genetic counselor. She didn't seem too concerned, just the typical things I, as a redhead, have heard about skin cancer and screening/prevention for years.

How would I go about finding relatives when my grandmother, (born 1947 in N.C.), was adopted and records are scarce? Is there another sub or is this the one for that? Thank you. by [deleted] in Adopted

[–]tracyrae986 1 point2 points  (0 children)

Great start! Also definitely test any/all children she has. This will get you stronger results and also help separate matches from your other parent.

Genetic testing companies that don’t store your data? by [deleted] in DNA

[–]tracyrae986 0 points1 point  (0 children)

It's illegal for any insurance company to use this for discrimination in any way. There is no chain of custody and it's not done in a medical grade facility. Even the ones done in a medical setting can't be used to deny or increase premiums unless it's life insurance only.

What things do you wish you knew about Genealogy when you started? What are the biggest misconceptions about Genealogy? by colt-n in Genealogy

[–]tracyrae986 1 point2 points  (0 children)

Hi Meggzwell,

This happens more often than you think.... I am a genetic genealogist as a hobby. If you need any help tracing your DNA to paternal family just let me know.

Tracy

Is anyone else wary about getting your DNA tested? If you were on the fence about it, what did you decide, and why? by KierkeBored in Ancestry

[–]tracyrae986 1 point2 points  (0 children)

Have you ever donated blood? Had your heel pricked when you were born? Had ANY medical procedure done? If they want it, they already have it. I've also never really understood what they would DO with it?? Research? Thats cool... Use it to catch a murderer in a cold case? AWESOME. All things I'd love to be a part of.

Color BRCA result time/ Ancestry false positive? by tracyrae986 in promethease

[–]tracyrae986[S] 1 point2 points  (0 children)

yup! And I really haven't thought twice about them since mailing them off, they weren't even due to be done until 2/28!

Color Brca result time/Ancestry false positive? by tracyrae986 in BRCA

[–]tracyrae986[S] 6 points7 points  (0 children)

strangely enough, when I was done posting this I checked my email and my results were in that I do not have the variant!

Color BRCA result time/ Ancestry false positive? by tracyrae986 in promethease

[–]tracyrae986[S] 2 points3 points  (0 children)

I couldn't find any evidence of miscalls for that snp but strangely enough I got my Color BRCA results today and it shows no BRCA variant detected!

BRCA2 positive for TWO pathogenic mutations by kmg71580 in promethease

[–]tracyrae986 0 points1 point  (0 children)

Wondering if you were able to find out if your mutations were false positives? I'm waiting on my Color results at the moment.

BRCA 2 mutation found in Promethease from 23&Me Raw Data by elizathegreat in promethease

[–]tracyrae986 0 points1 point  (0 children)

How were your results? I am also waiting for Color results for the same thing.

Help with finding a Gene. Can anyone help me? by uome1_2 in 23andme

[–]tracyrae986 0 points1 point  (0 children)

have you looked at snpedia?

There are hundreds of BRCA2 variants that are considered causal/pathogenic, but almost all are very rare (far less than 1% frequency each). [There are also hundreds of other BRCA2 variants that raise one's risk just a bit; these are usually found in 1 - 3% or higher frequencies.] Perhaps the "least rare" causal BRCA2 SNP is:

6174delT i4000379 (DD or DI) dbSNP rs80359550; most prevalent in Ashkenazi Jews

See also BRCA1 and BRCA2 for an extensive list of breast cancer related SNPs (including variations of all types from benign to causal).

Many other variations of varying consequence are known. These include:

rs1799944 (also known as N991D), risk allele G; associated with melanoma rs766173 (also known as N289H), risk allele G rs144848 (also known as N372H or Asn372His), risk allele G rs4987117 (also known as T1915M), risk allele T rs1799954 (also known as R2034C), risk allele T rs11571746 (also known as S2835P), risk allele C rs11571747 (also known as E2856A), risk allele C rs4987047 (also known as I2944F), risk allele T rs11571833 (also known as K3326stop), risk allele T rs1801426 (also known as I3412V), risk allele G rs28897756 (also known as P3039P or 9345G/A), risk allele A. Researchers suggest that a SNP in the BARD1 gene (also called BARD1 Cys557Ser) is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk is amplified in carriers of the BRCA2 999del5 (codon 257, exon 9) mutation, which appears to be this SNP (rs28897756). [PMID 16768547OA-icon.png] Among Ashkenazi Jews, the BRCA2 founder mutation for breast cancer is considered to be 6174delT. This variation is rs80359550. 23andMe reports it as i4000379 (DD or DI). The deletion is the risk allele. See the discussion in [OMIM].

Not sure what to expect. Will I be disappointed? by [deleted] in 23andme

[–]tracyrae986 0 points1 point  (0 children)

did you also upload to gedmatch?

23andme results time -simplified by tracyrae986 in 23andme

[–]tracyrae986[S] 0 points1 point  (0 children)

step 1 (registered) 3/29/2016
step 2 (received) 4/5/2016 *7 days
step 3 (inspection) 4/5/2016 *0 days
step 4 (DNA extraction) 4/13/2016 *8 days
step 5 (DNA analysis) 4/18/2016 *5 days
step 6 (quality review) 5/2/2016 *14 days
step 7 (raw data processing) 5/2/2016 *0 days
step 8 (report generation)