The Genetic Mutation Most People Don't Know about - but Should

Daily Herald (Arlington Heights, IL), August 14, 2019 | Go to article overview

The Genetic Mutation Most People Don't Know about - but Should


Byline: Submitted by Northwestern Medicine

Kristina Hughes of Elburn was weaning her 14-month-old son from breastfeeding when she felt a lump. As a 27-year-old nurse practitioner with no family history of breast cancer, Hughes wasn't overly concerned. But tests confirmed, she had stage 2 breast cancer and an inherited genetic mutation in a tumor suppressor gene called PALB2 which stands for partner and localizer of BRCA2.

"Most people have never heard of it," says Hughes. "It's not as widely familiar as BRCA1 and BRCA2, which are known to increase the risk of breast and ovarian cancers. But more people are being diagnosed with it."

"The PALB2 gene codes for proteins known to interact with BRCA1 and BRCA2 proteins. Together, they aid in DNA recombination and damage repair. When working properly, these proteins help prevent a person from getting certain types of cancers," explains Mike Suguitan, a genetic counselor at Northwestern Medicine Cancer Center Delnor. "But when we find a PALB2 mutation, we can confirm there's a hereditary cause or underlying predisposition for breast cancer in the family."

Breast cancer can happen at varying ages in the same family with the same PALB2 mutation. For female breast cancer, the risk increases with age. Carriers of PALB2 mutations have a 15% risk of developing breast cancer by age 50, and a 35% increased risk by age 70.

"Approximately 5-10% of breast cancers are hereditary," adds Suguitan. "Whether it's BRCA1, BRCA2, PALB2 or another gene, we tend to find gene mutations in women diagnosed with breast cancer below the age of 50."

Due to her cancer diagnosis and PALB2 mutation, Hughes' dream of biologically having three or four children took a different direction. Before starting cancer treatment at Northwestern Medicine Cancer Center Delnor, Hughes underwent in vitro fertilization (IVF) to save some of her embryos. Unfortunately, they were too immature and unable to survive. Needing to start chemotherapy right away, there wasn't enough time for another round of IVF. And on top of that, Hughes' body was about to be put into early menopause.

"Kristina is on adjuvant Tamoxifen and a monthly injection drug called Trelstar which suppresses her ovarian function," explains Perry Menini, DO, hematologist and medical oncologist at Northwestern Medicine Cancer Center Delnor. "She also received adjuvant chemotherapy, which temporarily suppresses ovarian function and puts her into a chemotherapy-induced menopausal state. Based on a clinical trial, the risk of her cancer returning is significantly less if we combine ovarian suppression and an antiestrogen hormonal therapy compared to antiestrogen hormonal therapy alone. …

The rest of this article is only available to active members of Questia

Already a member? Log in now.

Notes for this article

Add a new note
If you are trying to select text to create highlights or citations, remember that you must now click or tap on the first word, and then click or tap on the last word.
One moment ...
Default project is now your active project.
Project items
Notes
Cite this article

Cited article

Style
Citations are available only to our active members.
Buy instant access to cite pages or passages in MLA 8, MLA 7, APA and Chicago citation styles.

(Einhorn, 1992, p. 25)

(Einhorn 25)

(Einhorn 25)

1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

Note: primary sources have slightly different requirements for citation. Please see these guidelines for more information.

Cited article

The Genetic Mutation Most People Don't Know about - but Should
Settings

Settings

Typeface
Text size Smaller Larger Reset View mode
Search within

Search within this article

Look up

Look up a word

  • Dictionary
  • Thesaurus
Please submit a word or phrase above.
Print this page

Print this page

Why can't I print more than one page at a time?

Help
Full screen
Items saved from this article
  • Highlights & Notes
  • Citations
Some of your highlights are legacy items.

Highlights saved before July 30, 2012 will not be displayed on their respective source pages.

You can easily re-create the highlights by opening the book page or article, selecting the text, and clicking “Highlight.”

matching results for page

    Questia reader help

    How to highlight and cite specific passages

    1. Click or tap the first word you want to select.
    2. Click or tap the last word you want to select, and you’ll see everything in between get selected.
    3. You’ll then get a menu of options like creating a highlight or a citation from that passage of text.

    OK, got it!

    Cited passage

    Style
    Citations are available only to our active members.
    Buy instant access to cite pages or passages in MLA 8, MLA 7, APA and Chicago citation styles.

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn, 1992, p. 25).

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences." (Einhorn 25)

    "Portraying himself as an honest, ordinary person helped Lincoln identify with his audiences."1

    1. Lois J. Einhorn, Abraham Lincoln, the Orator: Penetrating the Lincoln Legend (Westport, CT: Greenwood Press, 1992), 25, http://www.questia.com/read/27419298.

    Cited passage

    Thanks for trying Questia!

    Please continue trying out our research tools, but please note, full functionality is available only to our active members.

    Your work will be lost once you leave this Web page.

    Buy instant access to save your work.

    Already a member? Log in now.

    Search by... Author
    Show... All Results Primary Sources Peer-reviewed

    Oops!

    An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.