Study Suggests Men with Metastatic Prostate Cancer Should Be Tested for Inherited Mutations

Excerpt:

“Inherited mutations in DNA-repair genes, such as the BRCA genes, can increase cancer risk. A new study shows that DNA-repair mutations are significantly more common in men with metastatic prostate cancer compared with men whose prostate cancer hasn’t spread. This suggests all men with advanced prostate cancer should be tested for inherited DNA-repair mutations to help select the most effective therapies and provide information on family risk.”

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Tests to Gauge Genetic Risks for Prostate Cancer Now Are Feasible

“Men with an elevated, genetically inherited risk for prostate cancer could be routinely identified with a simple blood or urine test, scientists at UC San Francisco and Kaiser Permanente Northern California have concluded, potentially paving the way to better or earlier diagnosis.

“The study, which compared 7,783 men with prostate cancer to 38,595 men without the disease, is available online and will be published in an upcoming issue of the journal Cancer Discovery.

“The new study is one of the first to come out of the collaboration between UCSF and Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH), which analyzed genetic samples and health records from more than 100,000 volunteers, making it one of the largest research projects in the United States to examine the genetic, health and environmental factors that influence common diseases such as prostate cancer.

“The researchers modeled using 105 specific bits of DNA that commonly vary among individuals and that they confirmed are associated with prostate cancer risk. While they estimated that each of these genetic variants only modestly alters risk, they determined that men with combinations of these DNA variants that placed them among the highest 10 percent for risk were more than six times as likely to be diagnosed with prostate cancer compared to the men who ranked among the lowest 10 percent for prostate cancer risk.”


Family History of Breast or Ovarian Cancer Is Linked to Triple-Negative Breast Cancer in Women of Mexican Descent

“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 at the American Association for Cancer Research (AACR) conference on The Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved, held Nov. 9–12.

” ‘Triple-negative breast cancer is one of the worst breast cancer subtypes in terms of outcomes,’ said Maria Elena Martinez, PhD, the Sam M. Walton endowed chair for cancer research and a professor in the Department of Family and Preventive Medicine at the University of California San Diego Moores Cancer Center in La Jolla. ‘So, our finding that family history is related to breast cancer subtype for Hispanic women of Mexican descent has tremendous implications for breast cancer treatment, screening, and prevention among this population. It not only affects decisions around treatment plans for patients, but extends to screening and prevention plans for family members.

” ‘Before our study, we knew very little about the factors that affect Hispanic/Latina women’s risk for breast cancer,’ Martinez continued. ‘The Ella Binational Breast Cancer Study was initiated to try and address this issue for Hispanic women of Mexican descent.’ “


Melanoma-Prone Families with CDKN2A Mutations Have Higher Rates of Additional Cancers

The gist: Some people whose families have high rates of melanoma may also have an increased risk of developing lung, pancreatic, and breast cancer. Specifically, people whose families have a mutation in the CDKN2A gene are more prone to developing other types of cancer. Oncologists can perform molecular testing to see whether a person has a CDKN2A mutation.

“Researchers discovered an increased prevalence of lung, pancreatic and breast cancer in families prone to melanoma who also carry CDKN2A germline mutations.

“In a cross-sectional study, researchers analyzed the effect of CDKN2A in 702 Spanish patients at high risk of developing melanoma and associations with clinical and family history features.

“Patients with sporadic multiple primary melanoma had a CDKN2A mutation prevalence of 8.5%, and those with familial melanoma had a CDKN2A mutation prevalence of 14.1%.

“The researchers found that the number of cases in the family, the number of primary melanomas and the age of onset were each associated with the presence of CDKN2A mutation.”


BRCA2 Mutations Herald Poor Prognosis in Screen-Detected Prostate Cancer

Editor’s note: You may have heard about the BRCA2 mutation, which can increase a person’s risk for breast cancer. Studies have also shown that it can increase a man’s risk of prostate cancer. Studies have also shown that prostate cancer patients with BRCA2 mutations generally do not survive as long as prostate cancer patients without BRCA2 mutations. A new study explored this more in depth by looking at survival rates for BRCA2+ men who were diagnosed with prostate cancer after standard screening. These men did indeed have shorter survival times than prostate cancer patients without BRCA2 mutations. The researchers say these patients might “benefit from additional therapies, such as with cis-platinum or a PARP [poly ADP-ribose polymerase] inhibitor.”

“Among men with prostate cancer detected on screening, survival among those with a mutation in the BRCA2 gene is much poorer than in those without such a mutation, researchers report.

“The findings suggest that BRCA2 mutation carriers may warrant additional treatments to improve their prognosis, say Steven Narod (Women’s College Hospital, Toronto, Ontario) and fellow authors writing in the British Journal of Cancer.

“BRCA2 mutations are known to confer an increased risk for developing prostate cancer and also to be associated with more aggressive tumours. However, the effect of BRCA2 mutations status on mortality in the setting of screen-detected cancers is unclear.”


Faster Genetic Testing Method will Likely Transform Care for Many Patients with Breast Cancer

“When a woman is diagnosed with breast cancer, it’s important to know as much about her tumour as possible to determine the best treatment. Most cases of breast cancer are sporadic, but a minority are hereditary and caused by one or more mutations in genes such as BRCA1 or BRCA2. To find such genetic mutations in newly diagnosed patients, researchers must sequence the woman’s DNA, which is generally a relatively slow process that generates results weeks or months after patients have started treatment. Next generation sequencing (NGS) is a newer method of sequencing DNA that processes large amounts of data. It’s faster and more expensive than conventional sequencing, but in recent years it has become cheaper and more widely accessible by rapid advances in computing power. With the use of NGS, which will soon become the mainstay of clinical genetics, breast cancer units will likely be able to get the results of genetic testing before patients begin their breast cancer treatment.”


Inherited Mutated Gene Raises Lung Cancer Risk for Women, Those Who Never Smoked

“People who have an inherited mutation of a certain gene have a high chance of getting lung cancer—higher, even, than heavy smokers with or without the inherited mutation, according to new findings by cancer researchers at UT Southwestern Medical Center. Although both genders have an equal risk of inheriting the mutation, those who develop lung cancer are mostly women and have never smoked, the researchers found.

“People with the rare inherited T790M mutation of the epidermal growth factor receptor (EGFR) gene who have never smoked have a one-in-three chance of developing lung cancer, researchers found. This risk is considerably greater than that of the average heavy smoker, who has about a one-in-eight chance of developing lung cancer – about 40- fold greater than people who have never smoked and do not have the mutation.”