Study reveals young women with the BRCA mutation feel different and misunderstood

September 26, 2012

(Medical Xpress)—A study authored by Rebekah Hamilton, RN, PhD, associate dean of the Rush University College of Nursing, found that young women with a BRCA1 and BRCA2 gene mutation felt different and misunderstood.

Women who inherit a have a significantly increased risk of developing breast, or both. A mutation in BRCA2 increases risk of melanoma and cancers of the pancreas, stomach and gallbladder. While genetic testing may help a woman manage her risk, she may also face complicated decisions regarding relationships, childbearing and a career. The study is published in the October issue of the American Journal of Nursing (AJN).

"Although there have been advances in determining a person's for disease, little is still known about the psychosocial consequences among young women who carry the and 2 mutations," said Hamilton. "While being told you have a disease is distressing, learning that you carry a that increases your risk of disease as well as that of your siblings and children raises other, more complex, issues."   

In 2006, participants with breast cancer and/or BRCA gene mutations were recruited from websites for women. Forty-four 18 to 39 from 22 states and Canada who were found to carry a BRCA mutation were interviewed by phone or e-mail. A qualitative, grounded theory analysis was performed focusing on the participants' being young and having had genetic testing for the BRCA mutation. The findings focused on three characteristics of the participants—whether or not they were married, had children or had breast cancer and how those characteristics were affected by the women's knowledge of their genetic risk.

Among the 13 unmarried participants, issues included when to tell a new partner about your genetic risk; how early in a relationship to discuss having children or plans for prophylactic or oophorectomy. Young women showed concerns surrounding the impact of pregnancy on cancer development, the disruptions on relationships and a sense of discrimination from one's peers. Some expressed a feeling of being less perfect than other family members.

Many of the 24 participants who had children reported "staying alive" for their children as a primary goal and expressed concern and guilt that they might have passed the mutation to their children; the childless women reported an urgency to have children.

Of the 21 who had a breast cancer diagnosis, several said knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically.

"While learning that you have the mutation can empower a woman to reduce her risk of developing cancer or detect it in its earlier stages, it can cause her to worry for herself, her children and other family members," said Maureen Shawn Kennedy, MA, RN, editorial director and interim editor-in-chief of AJN. "Nurses need to recognize a patient's knowledge of genetic risk before testing, and consider such factors as woman's age, marital status, breast cancer diagnosis, presence or absence of children, family history of , family's response to and choices of surveillance as important aspects of care."

Explore further: Gene inheritance patterns influence age of diagnosis in BRCA families

Related Stories

Gene inheritance patterns influence age of diagnosis in BRCA families

December 12, 2011
Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, according to a new study ...

Risk for developing new cancer in other breast increased for survivors with BRCA mutation

December 8, 2011
Breast cancer survivors who carry the BRCA1 or BRCA2 genetic mutation are at high risk for developing contralateral breast cancer — a new primary tumor in the other breast — and certain women within this group of ...

Recommended for you

Zebrafish larvae could be used as 'avatars' to optimize personalized treatment of cancer

August 21, 2017
Portuguese scientists have for the first time shown that the larvae of a tiny fish could one day become the preferred model for predicting, in advance, the response of human malignant tumors to the various therapeutic drugs ...

Scientists discover vitamin C regulates stem cell function, curbs leukemia development

August 21, 2017
Not much is known about stem cell metabolism, but a new study from the Children's Medical Center Research Institute at UT Southwestern (CRI) has found that stem cells take up unusually high levels of vitamin C, which then ...

Searching for the 'signature' causes of BRCAness in breast cancer

August 21, 2017
Breast cancer cells with defects in the DNA damage repair-genes BRCA1 and BRCA2 have a mutational signature (a pattern of base swaps—e.g., Ts for Gs, Cs for As—throughout a genome) known in cancer genomics as "Signature ...

How a non-coding RNA encourages cancer growth and metastasis

August 21, 2017
A mechanism that pushes a certain gene to produce a non-coding form of RNA instead of its protein-coding alternative can promote the growth of cancer, report researchers at the Medical University of South Carolina (MUSC) ...

Spaser can detect, kill circulating tumor cells to prevent cancer metastases, study finds

August 21, 2017
A nanolaser known as the spaser can serve as a super-bright, water-soluble, biocompatible probe capable of finding metastasized cancer cells in the blood stream and then killing these cells, according to a new research study.

Comprehensive genomic analysis offers insights into causes of Wilms tumor development

August 21, 2017
A comprehensive genomic analysis of Wilms tumor - the most common kidney cancer in children - found genetic mutations involving a large number of genes that fall into two major categories. These categories involve cellular ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.