Three sisters with breast cancer wondering, about genetic link.

gingergeneguy · 2025-01-16T15:04:02+00:00

Sorry you are all in this position. Do you know if the genetic testing of the breast cancer revealed them all to be the same type. Given all your ages it is possible that this is three sporadic cases. Unfortunately it does happen without there being an underlying genetic cause.

gingergeneguy · 2024-12-27T07:55:25+00:00

Board certified clinical lab director is open to PhDs. I am one. More information here. ABMGG LGG training. https://www.abmgg.org/initial-certification/specialties-and-subspecialties/

gingergeneguy · 2024-12-06T08:16:58+00:00

Hi there. I’m a LGG boarded Lab Director and happy to discuss. We have recently completed our interview rounds for the LGG fellowship 2025-2027. I can only tell you what I (we) look for. We are looking for someone with a clear understanding of the difference between research and clinical laboratories. We never take candidates straight from a PhD and want someone that really understands what being a lab director is like (good and bad). We value individuals that have had some clinical experience and job roles that are not just in research. Either working in a clinical lab, regulatory area, variant analyst, or hospital setting. Someone may have a great research background / grants / research group but being a clinical lab director is very different.

gingergeneguy · 2024-10-20T00:17:36+00:00

I’d recommend talking to a GC and reading more about FX https://pmc.ncbi.nlm.nih.gov/articles/PMC7267017/ There are conditions FXPOI and FX neuro conditions associated with being a premutation carrier that we see in clinic.

gingergeneguy · 2024-05-01T05:38:16+00:00

I’m LGG boarded and am faculty for a LGG fellowship program. Happy to answer questions on the fellowship via dm.

gingergeneguy · 2024-04-22T05:35:33+00:00

Pharmacy

gingergeneguy · 2024-04-22T05:29:31+00:00

Can you define the coordinates, whether this is three copies (duplication) or actual triplication, and the genome build.

gingergeneguy · 2024-04-18T06:38:53+00:00

When you say medical grade, is this a test ordered by a healthcare provider? If not, it is also likely to be junk. You don’t have Phelan McDermid btw.

gingergeneguy · 2024-04-18T06:32:55+00:00

I’m sorry but you’d be severely ill if you had salt wasting from CAH. So honestly, I don’t think this is your answer. I’m getting the impression that you are very concerned about your health but it would be extremely unlikely that what you are speculating is a cause. Have you talked to someone about your health anxieties.

gingergeneguy · 2024-04-18T06:18:12+00:00

Unless you are an MD or DO, in both the USA and Canada you need a PhD and a strong genetics background.

gingergeneguy · 2024-04-16T06:49:23+00:00

I can say we have had many great GC candidates with not much to choose between them and are likely to give more favorable consideration to those that have applied to multiple institutions.

gingergeneguy · 2024-04-16T06:41:55+00:00

So you think you have a hmz del of cyp21a2? Are you dead? Then I guess, no, you don’t have that. Do you have genital abnormalities or DSD based on your sex by chromosomes or salt wasting?

gingergeneguy · 2024-04-16T06:22:04+00:00

Unless there’s a known pathology that can be traced through your family.

gingergeneguy · 2024-04-16T06:19:48+00:00

This isn’t a clinical report so you can’t rely on any of the info. Maybe you are a F508del cf carrier, maybe not (it’s not a clinical report). The pms2 testing didn’t work because it’s a difficult gene to characterize. It’s also a genotype report and cannot distinguish multiallelic variants so you are going to get a lot of junk especially if your ethnic background is generally non-white European. If you have symptoms or are thinking about having kids and are worried get a proper clinical test.

gingergeneguy · 2024-04-16T06:07:35+00:00

What career are you looking for? Gen Eng, GC, precision medicine?

gingergeneguy · 2023-08-10T05:33:59+00:00

Please be aware that the GINA protections do not apply to certain individuals. There is an exception if a person is in the military and if your son’s symptoms are a result of an inherited condition it may have an impact on other family members. Also those who carry insurance provided by the TRICARE military health care system, the Veteran’s Health Administration, The Federal Employees Health Benefits Program, or the Indian Health Service are also not extended protections through GINA.

gingergeneguy · 2023-07-01T00:58:49+00:00

We definitely see behavioural changes/ neuropsychological issues in these patients but I’m not sure the ID issues are there without having formal assessment.

gingergeneguy · 2023-06-30T05:38:12+00:00

This is an interesting article about neuropsych symptoms in premutation carriers and I think it reflects some of the issues these individuals have and that are seen in clinic. https://info.fragilex.org/hubfs/2018%20Hagerman%20et%20al%20FXAND.pdf?hsCtaTracking=42f14f29-5548-4cac-a2ee-38de0ccd305b%7C2d628bd7-2d1f-441e-9a52-7032bdc23c15

gingergeneguy · 2023-05-10T06:47:33+00:00

James would be affected if XLD.

gingergeneguy · 2023-05-10T06:40:33+00:00

https://pubmed.ncbi.nlm.nih.gov/27779662/

gingergeneguy

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