Study Finds Incidence of Mutations in DNA-Repair Genes Significantly Higher in Men With Metastatic Prostate Cancer

Excerpt:

“The incidence of mutations in DNA-repair genes was significantly higher among men with metastatic prostate cancer than among men with localized disease (11.8% vs 4.6%), according to a study by Pritchard et al reported in The New England Journal of Medicine. In addition, the frequency of germline mutations in DNA-repair genes among men with metastatic prostate cancer did not differ significantly according to age at diagnosis or family history of prostate cancer. ”

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Breast Cancer Survivors Gain Weight at a Higher Rate than Their Cancer-Free Peers

“Breast cancer survivors with a family history of the disease, including those who carry BRCA1 and BRCA2 gene mutations, gained more weight over the course of four years than cancer-free women—especially if they were treated with chemotherapy, according to a prospective study by Johns Hopkins Kimmel Cancer Center researchers.

“Data from earlier studies suggest that breast cancer survivors who gain weight may have a higher risk of having their cancer return, the researchers say, noting that gains of 11 pounds or more are also associated with a higher risk of developing cardiovascular disease.

“For the study, the researchers reviewed a baseline questionnaire and a follow-up one completed four years later by 303 breast cancer survivors and 307 cancer-free women enrolled in an ongoing and long-term study at the Kimmel Cancer Center of women with a family history of breast or ovarian cancer. Study participants completed a baseline and at least one follow-up questionnaire between 2005 and 2013, and one-quarter of the subjects were premenopausal.”


Family History of Breast Cancer Doesn't Mean a Poor Prognosis for Women Who Develop the Disease

“A new large study finds that women who are diagnosed with breast cancer and have a family history of the disease face no worse of a prognosis after treatment than other women with breast cancer. The study, which was published recently in the BJS (British Journal of Surgery), offers a positive message for women who may worry about their future in light of a family history of breast cancer.

“About one- quarter of breast cancer cases in developed countries are thought to be related to hereditary factors. It can be scary for a woman to know that she has a family history of the disease, but after diagnosis, what’s her prognosis compared with without a family history?

“To answer this question, Mr. Ramsey Cutress, an Associate Professor in at the University of Southampton and University Hospital Southampton Foundation Trust, and his colleagues conducted an analysis of the Prospective Outcomes in Sporadic versus Hereditary breast cancer (POSH) study, which included 2850 women under age 41 years who were diagnosed with breast cancer and treated in the UK. The study, led by principal investigator Professor Diana Eccles, recorded patients’ personal characteristics, tumour characteristics, treatment, and family history of breast/ovarian cancer over a 15-year period.

“The investigators found that there were no significant differences in cancer recurrence rates after treatment for with a history of breast cancer versus those without.”


Tumor Sequencing Study Highlights Benefits of Profiling Healthy Tissue as Well

“As the practice of genetically profiling patient tumors for clinical treatment decision making becomes more commonplace, a recent study from The University of Texas MD Anderson Cancer Center suggests that profiling normal DNA also provides an important opportunity to identify inherited mutations that could be critical for patients and their families.

“Preliminary findings from this ongoing study will be presented by Funda Meric-Bernstam, M.D., professor and chair, Investigational Cancer Therapeutics, on June 1 at the American Society for Clinical Oncology 2015 Annual Meeting in Chicago.

“The MD Anderson research team sequenced tumor and normal DNA from patients with advanced cancer, with the goal of sharing results with patients to better educate them going forward. Sequencing normal tissue is not routinely done in the research environment, but comparing tumor versus normal DNA can distinguish between germline, or inherited, mutations and those found only in the tumor.”


Penn Medicine Study Reveals Why Almost Half of At-Risk Patients Opt Out of Comprehensive Multiplex Cancer Screening

“Some at-risk patients opted out of comprehensive cancer gene screening when presented with the opportunity to be tested for the presence of genes linked to various cancers, according to a recent study led by researchers at the Perelman School of Medicine at the University of Pennsylvania and the Basser Center for BRCA in Penn’s Abramson Cancer Center. Concern for uncertainty and potential distress were cited among the most common reasons to refuse testing. The results, published in Genetics in Medicine, were released just weeks ahead of an announcement of the online availability of low-cost genetic testing for breast and ovarian cancer mutations. Authors say the results suggest that patients have varying interest in ‘gene panels’ when they are informed of the potential risks and benefits, reflecting the current need for pre-test counseling when genetic panel testing is considered for at-risk patient populations.

“The study found that of the 49 patient participants, all of whom have a family or personal history that puts them at-risk for development breast and other forms of cancer, more than one-third declined multiplex testing. Multiplex testing allows for the simultaneous analysis of alterations in multiple cancer-related genes, and is an alternative to targeted tests that screen for individual forms of cancer. A targeted test might look for inherited mutations in the BRCA1 and BRCA2 genes, for example, which increase the risk of breast, ovarian, and other types of cancer. Some patients also declined the study all together because they were concerned about the uncertainty or distress with testing.”


BRCA Mutation Testing in Triple Negative Breast Cancer Useful Even When There Is No Family History

The gist: Recent research shows that testing for BRCA1 and BRCA2 mutations might be useful for patients with triple-negative breast cancer, even if they have no family history of breast cancer.

“The high prevalence of deleterious mutations in predisposition genes in patients with triple-negative breast cancer unselected for family history suggests germline genetic testing for BRCA1 and BRCA2 mutations may be appropriate in this population, according to study results.

“However, further analyses of non-BRCA genes are needed to assess their utility in this setting, researchers wrote.

“Fergus J. Couch, PhD, of the department of laboratory medicine and pathology at Mayo Clinic in Rochester, Minn., and colleagues evaluated data from 1,824 women with triple-negative breast cancer who were enrolled on one of 12 studies. All women were unselected for family history of breast or ovarian cancer, and most were non-Hispanic white (97%). The median age of the population at diagnosis was 51 years (range, 22-93).”


Melanoma Survivors Should Take Extra Measures to Protect Their Children from Sun

“A new study has found that children whose parents are melanoma survivors are not receiving the best possible protection from the sun and ultraviolet radiation.

“This lack of protection can lead to sunburn, increasing the risk of melanoma for the children, who already face a substantially higher risk of developing the skin cancer due to their family history.

“Melanoma is the most serious form of skin cancer as well as one of the most common. In the US, in 2014, it was estimated that 76,100 new melanomas would be diagnosed with around 9,710 people dying from the disease. According to the American Cancer Society, melanoma rates have been rising for the past 30 years.

“The authors of the study, published in Cancer Epidemiology, Biomarkers & Prevention, state that childhood is estimated to be one of the most critical exposure periods for conferring 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.’ “


What to Know if Breast Cancer Runs in Your Family

“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 have this disease.

“The University of Alabama’s Dr. John McDonald offers some guidance on what women should know if breast cancer runs in their family.”