Researcher contributes to debate on breast cancer gene screening

November 25, 2014, Women & Infants Hospital

There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in the U.S. and more than 40,000 deaths, it is clearly important to be able to determine which women may be genetically predisposed to breast cancer.

Glenn E. Palomaki, PhD, associate director of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island has recently published an invited commentary in the November issue of Genetics in Medicine. The commentary is entitled "Is it time for BRCA1/2 mutation screening in the general adult population? Impact of population characteristics."

A family history of breast or or a personal history of early-onset cancer are strong risk factors for . Systematic criteria when caring for a patient with a positive family history have been well established by such agencies as the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network.

Dr. Palomaki said, "With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA2 mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction."

In his commentary, Dr. Palomaki cited two recent publications that present perspectives on routine, population-based screening for breast cancer using BRCA1/2 mutations in different populations.

"Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening," said Dr. Palomaki. "Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population , as least for the moment."

Explore further: Family history of breast or ovarian cancer is linked to triple-negative breast cancer in women of Mexican descent

Related Stories

Family history of breast or ovarian cancer is linked to triple-negative breast cancer in women of Mexican descent

November 12, 2014
Breast cancer patients of Mexican descent who had a family history of breast or ovarian cancer were almost twice as likely to have triple-negative breast cancer than other subtypes of breast cancer, according to data presented ...

Lasker award-winner urges wider genetic tests for cancer

September 8, 2014
An American scientist Monday was awarded a top prize for discovering the location of the BRCA1 gene for breast cancer, and used the occasion to call for wider genetic testing of women.

What to know if breast cancer runs in your family

October 7, 2014
Breast cancer is the second leading cause of death from cancer in women. A woman's lifetime risk of developing breast cancer is 12 percent (1 of every 8 women). Breast cancer risk is higher among women whose close blood relatives ...

USPSTF: BRCA testing for women with family history

April 2, 2013
(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations.

Gene increases risk of breast cancer to one in three by age 70

August 6, 2014
Breast cancer risks for one of potentially the most important genes associated with breast cancer after the BRCA1/2 genes are today reported in the New England Journal of Medicine. Women with mutations in the PALB2 gene have ...

Study finds potential link between breast cancer genes and salivary gland cancer

October 8, 2014
The risk of developing cancer in a salivary gland might be higher in people with mutations in either of two genes associated with breast and ovarian cancer, according to a new study by researchers at The Ohio State University ...

Recommended for you

Eating foods with low nutritional quality ratings linked to cancer risk in large European cohort

September 18, 2018
The consumption of foods with higher scores on the British Food Standards Agency nutrient profiling system (FSAm-NPS), reflecting a lower nutritional quality, is associated with an increased risk of developing cancer, according ...

CRISPR screen reveals new targets in more than half of all squamous cell carcinomas

September 18, 2018
A little p63 goes a long way in embryonic development—and flaws in p63 can result in birth defects like cleft palette, fused fingers or even missing limbs. But once this early work is done, p63 goes silent, sitting quietly ...

Enlarged genotype-phenotype correlation for a three-base pair deletion in neurofibromatosis type 1

September 18, 2018
International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis ...

Artificial intelligence can determine lung cancer type

September 17, 2018
A new computer program can analyze images of patients' lung tumors, specify cancer types, and even identify altered genes driving abnormal cell growth, a new study shows.

Researchers develop mechanism for characterizing function of rare tumor cells

September 17, 2018
Scientists have long known that circulating tumor cells, rare cancer cells that are released into the bloodstream, have the potential to provide vital information about a person's specific cancer. But until now, they have ...

Nanoparticle therapeutic restores function of tumor suppressor in prostate cancer

September 17, 2018
Think of it as a cancer therapy zag instead of a zig. While many groups are developing cancer therapies to target proteins and pathways that are highly active in cancer cells, a team of investigators from Brigham and Women's ...

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.