BRCA1

It's one of my biggest pet peeves with video games.

February 16th, Angelina Jolie undergoes a preventative double mastectomy after learning she had an 87% risk of developing breast cancer due to the defective BRCA1 gene.

Yeah, good.

I was about to say, brave of her to do that.

Same concept, 51-year-old, de novo, triple negative to lung, minimally symptomatic, PD-L1 positive, HER2 0.

Germline shows BRCA1.

So the difference here is it's HER2 0.

She's a little bit symptomatic.

Um, then we talked about mutations as well.

So anybody who's had a strong family history of cancers and who has a mutation in, say, BRCA1 or BRCA2, um, or any type of Lynch syndrome, um, should also, you know, be considered to be high risk.

Uh, and lastly, like we said, f- family history does play a significant role, um, with prostate cancer, especially if you've had more than two or three first-degree relatives, you know, who have had it.

So those are all factors to consider.

Remove the tubes now, remove the ovaries later.

So there are studies looking at this approach in women, specifically with BRCA1 and BRCA2.

And in one of the big studies, almost three quarters of the women choose the tubes first option, which honestly doesn't shock me because when you're actually the woman making the decision and somebody says, okay, option A, remove your ovaries now and go straight into surgical menopause and manage symptoms.

Or option B, potentially keep your ovaries a little bit longer, just remove the tubes, potentially reduce some type of risk.

The research is absolutely worth paying attention to.

But we do not yet know whether the tubes are Average woman has a lifetime ovarian risk around 1%.

For someone with BRCA1, we're talking about a risk of roughly 40 to 60%.

And for BRCA2, it's about 13 to 30%.

Kyle deployed to Iraq in 2006 and now serves full time with the Seekonk Police Department in Massachusetts.

He and his wife Meg, a nurse practitioner and a breast cancer survivor with the BRCA1 mutation, spent years navigating toxic exposure-related infertility, IUI, and IVF before welcoming their daughter, Mayla, through donor eggs.

That deeply personal journey revealed a massive gap in support for veterans and first responders facing family building challenges.

Kyle now advocates to raise awareness, connect affected service members with resources, and push for better policies and coverage.

We started to try to have a family roughly five years ago i'd say beginning of 2020 2021 when when we came together and.

As you had said in the intro that was beautifully said that my wife mag is a is a nurse practitioner and she is a breast cancer survivor so.

She has the BRCA1 gene, which is just a mutation that correlates usually to very high chances of having cancer.

And her mother has it, she has it, her sister has it, and her niece and nephew have it.

But the industry, for many reasons, um, that made incredible sense from a, from a, a, an industrial logic standpoint, the, the, the industry was really focused on multi-gene panels.

So moving from BRCA1 and BRCA2 to, you know, there's now dozens of, of genes that are on a multi-gene panel.

But what GeneDx was really able to do over those years is invest in the core technology, build the biggest reference set of data, um, genotypic data and clinical data from notes that, that a doctor might submit, um, that give clinical context.

And so they've been building this, this core technology.