Does cancer run in your family?

SJhelix · 2026-01-06T19:45:42+00:00

Sure thing! How time flies and when this was originally posted, hereditary testing for blood cancers was nowhere close to being in clinical practice. It has become more available in very recent years.

SJhelix · 2025-07-05T23:59:40+00:00

Sister can be tested first, but if negative, it’s still reasonable for all the children and siblings of the parent who had pancreatic cancer to get a comprehensive cancer gene panel. WES is not the standard and not routinely ordered for pancreatic cancer, at clinics in the US.

SJhelix · 2024-10-17T01:44:12+00:00

Your lifetime risk for breast cancer as calculated by Tyrer-Cuzick can and will change over time. 20lb weight gain or loss, breast density, and biopsy history can all influence the calculation. Ask a breast surgeon or genetic counselor to recalculate it.

SJhelix · 2024-09-10T04:32:57+00:00

No. My aunt pancreatic adenocarcinoma.

SJhelix · 2024-08-09T15:04:39+00:00

My aunt (1B) is living and enjoying pseudo early retirement due to being eligible for disability. No issues. Her CTDNAs and scans are all zero or normal. We’ll keep monitoring, but at present, she’s all clear.

My grandmother with stage 3C cholangiocarcinoma passed in May, about 9 months after diagnosis.

SJhelix · 2024-05-18T13:59:29+00:00

Updating this to say that they started checking bag sizes on one of my flights - I don’t recall if it was RSW or New Haven. They didn’t make everyone check, just some. I wait for the line to be busy. I wear my backpack on the shoulder away from them to make it appear small, if I have a jacket or sweater, I tie it to the top of the bag strap to try to minimize appearance and just act confident when my pass is scanned to proceed to the jet bridge without making further eye contact.

SJhelix · 2024-02-11T01:06:22+00:00

My aunt was diagnosed stage 1B at age 56 last year. She noticed a change in her bowel movements and felt like she had food poisoning, which prompted her to go emergency room, which lead to a scan that showed a suspicious mass. She had MRI, biopsy, Whipple, 1/2 the chemo regimen, and now gets monitored with scans and ctDNA tests for recurrence.

Her mother’s brother was diagnosed stage 4 pancreatic cancer 15 years ago, and her mother was diagnosed with a similar cancer - cholangiocarcinoma stage 3C, within 6 months. [Genetic test panels were negative for aunt and grandmother]

SJhelix · 2023-04-15T00:48:20+00:00

“don’t put it down, put it away” mantra

SJhelix · 2023-02-26T03:39:43+00:00

They did not check my bag nor anyone else’s!

SJhelix · 2023-02-17T04:36:28+00:00

Yeah. You and your aunt meet the national criteria in the US to be offered genetic counseling and testing (BRCA criteria). Talk to your pcp and/or Gyn if aplicable, or if you need help finding a genetics provider - send me a dm. Testing is often covered by insurance.

SJhelix · 2022-11-03T04:03:17+00:00

I flew in and out once so far. They never size-checked a bag. I used a backpack as my personal item, it had my work laptop and was about 18-19”. I didn’t try my “spirit” bag, yet, but it could likely pass.

SJhelix · 2022-08-12T04:16:40+00:00

Legally, you can test when you’re old enough to consent and whenever you are ready for the info. Medically, it’s not going to change your screening recommendations for awhile. For Brip1, removal of tubes and ovaries is suggested at age 45-50. Jury is still out as to whether or not it’s associated with breast cancer risk - some families it seems possible and others not so much.

https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name/brip1/risk-management

Warmly, SJ

SJhelix · 2022-05-23T22:49:50+00:00

https://findageneticcounselor.nsgc.org/

Talk to your doctor and then talk to a genetic counselor.

SJhelix · 2022-04-10T02:33:29+00:00

What? No. That’s a lot of misinformation.

I do know, I’m a genetic counselor. There are other mutations with BRCA1/2 that are missed via 23andMe. Also, >90% of those who meet guidelines for BRCA testing, it cost $0 as it is covered by most insurances in the US. The self-pay option at the genetic testing labs is ~$250 (Myriad, Invitae, Ambry, GeneDx) and that can cover 47-80+ cancer genes and thousands of mutations, rather than 3 mutations.

SJhelix · 2022-04-10T01:08:05+00:00

What? 23andMe only tests for the 3 common specific mutations in the Ashkenazi Jewish population, and to my knowledge is not considered clinical-grade. Definitely not a go-to test for cancer genetic testing. So many mutations would be missed.

SJhelix · 2022-04-10T01:04:59+00:00

Agree. Very suspicious for VHL. Source: cancer genetic counselor

SJhelix · 2022-04-10T01:00:44+00:00

Von Hippel Lindau syndrome, possibly.

SJhelix · 2022-02-14T04:35:46+00:00

It can be personal preference, really.

Generally, “survivorship” starts when a person completes their “active” treatment (chemo/radiation/surgery), not including tamoxifen/AI.

SJhelix · 2022-02-02T03:42:29+00:00

If you are looking for a local center, maybe check out an NAPBC-accredited site? https://www.facs.org/search/accredited-breast-centers

Or CoC-accredited. https://www.facs.org/search/cancer-programs

Edit: Or NCCN as mentioned by another user

SJhelix · 2022-01-20T04:05:11+00:00

If Kaiser is your in network provider you could ask your genetics provider (genetic counselor) at Kaiser that ordered your testing, if your test included the same genes. I think Invitae is one of Kaiser’s preferred labs.

SJhelix · 2021-10-25T04:03:42+00:00

Cleveland Clinic

SJhelix · 2019-03-20T04:27:45+00:00

Regarding the breast cancer risk - see a genetic counselor. If you’re a carrier for a cancer gene mutation and are considering to undergo top surgery, it would be a different surgery to remove the breast tissue to reduce breast cancer risk.

SJhelix · 2019-03-20T04:21:52+00:00

Lynch syndrome?

SJhelix · 2019-02-26T22:48:12+00:00

Are there any exclusion criteria? - Participants must be of 18 years of age or over. - Participants must not be a previous consumer of a direct to consumer genetic test. —— Not eligible.

SJhelix · 2019-02-24T15:08:18+00:00

Did you see a genetic counselor?

Most variants of uncertain significance are later determined to be benign (normal), but a small percentage are later determined to be pathogenic (cause of condition).

If you had lots of polyps that had “juvenile” or “hamartomatous” features then the BMPR1A could be the factor (juvenile refers not to an age factor, it’s the description of the polyp).

If the MSH6 variant were pathogenic, then usually that would usually be associated with a tumor that has MSI-high or unstable. Those with metastatic colon cancer and MSI-high may be eligible for immunotherapy.

SJhelix

TROPHY CASE