Mutation Info

If you happen to hit this page because you or someone you know has the BRCA2 2024del5 mutation, please contact me!

Ever since I found out my family’s BRCA2 mutation I have been hungry for more information about the mutation.  Not simply the generic statistics that have been derived from all BRCA2 mutations combined but detailed cancer types and onset ages for the specific 2024del5 mutation my family has.  Why?  Because evidence is showing that these mutations do not necessarily have the same risk.  Unfortunately it’s not that easy to connect with the 0.25% of the population who are believed to carry a BRCA mutation let along the minuscule fraction who carry the exact same type of BRCA mutation as our family.

So I am creating this page to put out a “signal flag” if you will for anyone who may be happening to searching for more info just as I have often done.  Below is a summary of my family’s specific mutation along with key classification terms.

Myriad Report – Comprehensive BRACAnalysis

The results of this analysis are consistent with the germline BRCA2 mutation 2024del5, resulting in premature truncation of the BRCA2 protein at amino acid position 599.  Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70 in women (Am. J. Hum. Genet. 62:676-689, 1998). Mutations in BRCA2 have been reported to confer a 12% risk of a second breast cancer within five years of the first (J Clin Oncol 17:3396-3402, 1998), as well as a 16% risk of subsequent ovarian cancer (J Natl Cancer Inst 91:1310-1315, 1999). This mutation may also confer up to a 6% risk of male breast cancer by age 70 and 20% risk of prostate cancer by age 80 (J Natl Cancer Inst 91:1310-1315, 1999), as well as increased (albeit low) risks of some other cancers. Each first degree relative of this individual has a one-in-two chance of having this mutation.  Family members can be tested for this specific mutation with single site analysis.

Classification Info

Exon 10
Nucleotide 2024
Codon 599
Nucl_change del CTTAT
AA_change Stop599
DNA_pub 2024del5
HGVS cDNA c.1796_1800delTTTAT or c.1796_1800del5
HGVS Protein p.Ser599_Tyr600?fs
HGVS Genomic (hg19) g.32907411_32907415delCTTAT

Database Links

Leiden Open Variation Database Results

BIC Database Results

NCBI ClinVar Database Results

FORCE Database (search for 2024del5)


5 Responses to “Mutation Info”

  1. 1 Nicole

    I have the same mutation as you. BRCA2, 2024del5. I’m 36, I just found out and I got tested because my mom passed away from ovarian cancer last January. She was 64, diagnosed at 63. Please email me if you would like to discuss. I’m curious about our history!

    • 2 Jenn minkin

      Hi Nicole. I am sooooo sorry to hear about your mom.
      I found this page by searching my/our specific mutation. I cant believe there are only 4 of us on here so far..then again, I really dont have a concept of how this specific mutation relates to all brca2 carriers. Regardless, I am very curious to see what other similarities we all have.
      Im 40, diagnosed with breast cancer this past year. Prior to that I had no idea I was brca positive. Im happy for you for being tested BEFORE cancer.
      I wish I had had that opportunity. Are you doing preventative surgeries, or surveillance?
      I know my email wont show on here, so, it’s jennmarraminkin@icloud.com

      • 3 Nicole

        I’ve been doing surveillance for the past almost 2 yrs. Every six months I either have a mammo and sono or an MRI and sono. I’m contemplating having my ovaries removed when I hit my early forties. I’m sorry to hear about your diagnosis. I’ll email you if you want to discuss more.

  2. 4 Amanda

    I also have this same mutation. I’m a 28yo woman undergoing a preventative mastectomy December 3.

    • 5 Jenn minkin

      Hi Amanda, how did your surgery go?
      Im a 40 year old BC survivor in Southern California. Had my mastectomy in August.
      I found this site doing a search. I have so many questions..


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