“The public’s awareness of reconstructive breast surgery options were boosted following media coverage of Angelina Jolie’s hereditary disposition to breast cancer and preventive double mastectomy in 2013. The results of a prospective, public survey were published earlier this week in Cancer.
“Significantly more women were aware of reconstructive breast surgery options after mastectomies for breast cancer. About 20% of the 205 women polled communicated that their awareness and interest in breast cancer stemmed from the media coverage of Angelina Jolie. The survey results suggest that media coverage can improve the health IQ of the public.
“ ‘The results underscore the importance of a media-related impact for professionals in the health care sector, which can serve as a tipping point for raising awareness and improving knowledge concerning a specific disease among the general public,’ wrote David Benjamin Lumenta, MD, of the department of surgery at the Medical University of Graz in Austria, and colleagues.”
“A group of international researchers is making the case that genetic tests that look for multiple hereditary genes suspected of being linked to breast cancer should not be offered until they are proven to be valid and useful in clinical practice.
“Such tests, made by several companies including Myriad Genetics Inc, Ambry Genetics, Invitae and Illumina Inc, cover up to 100 inherited cancer genes, including more than 20 for breast cancer.
“They have become increasingly popular since June 2013, when the U.S. Supreme Court invalidated patents held by Myriad on BRCA1 and BRCA2, two well-characterized genes that put a woman at high risk for breast, ovarian and other cancers.
“What the researchers are concerned about are lesser-known genes included in the tests.
” ‘The reality is that we don’t have good risk estimates for mutations that occur in many of the genes on the panels,’ said Fergus Couch, a breast cancer expert at Mayo Clinic in Rochester, Minnesota.”
“The breast cancer drug tamoxifen has been shown to protect against the disease for at least 20 years in women who take the drug for five years.
“The IBIS-I trial (International Breast Cancer Intervention Study), led by Queen Mary University of London and funded by Cancer Research UK, has revealed that, among those using the drug breast cancer, rates fell by around a third.
“Professor Jack Cuzick, study leader and head of the Centre for Cancer Prevention at Queen Mary University of London, said: “A healthy diet and increased physical activity can help to prevent breast cancer, but for high risk women a more powerful intervention is needed. This is where tamoxifen, which is already recommended by NICE, [has] a role to play.”
“ ‘The landmark IBIS trials show the value of chemoprevention for women at high risk of breast cancer and highlight just how important these large and long-term studies are,’ said Dr Julie Sharp, head of health information at Cancer Research UK.
“The study, published in The Lancet Oncology, examined the long-term risks and benefits of taking tamoxifen to prevent breast cancer in women at high risk of the disease. Those classed as high risk were aged 35-70, primarily with a family history of breast cancer.”
“Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from the largest analysis to date of genetic mutations in this aggressive form of breast cancer. The results of the research appear in the Journal of Clinical Oncology.
” ‘Clinicians need to think hard about screening all their triple-negative patients for mutations because there is a lot of value in learning that information, both in terms of the risk of recurrence to the individual and the risk to family members. In addition, there may be very specific therapeutic benefits of knowing if you have a mutation in a particular gene,’ says Fergus Couch, Ph.D., professor of laboratory medicine and pathology at Mayo Clinic and lead author of the study.
“The study found that almost 15 percent of triple-negative breast cancer patients had deleterious (harmful) mutations in predisposition genes. The vast majority of these mutations appeared in genes involved in the repair of DNA damage, suggesting that the origins of triple-negative breast cancer may be different from other forms of the disease. The study also provides evidence in support of the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing of triple-negative breast cancer patients.
“Triple-negative breast cancer is a specific subset of breast cancer that makes up about 12 to 15 percent of all cases. The disease is difficult to treat because the tumors are missing the estrogen, progesterone and HER-2 receptors that are the target of the most common and most effective forms of therapy. However, recent studies have suggested that triple-negative breast cancer patients might harbor genetic mutations that make them more likely to respond to alternative treatments like cisplatin, a chemotherapy agent, or PARP inhibitors, anti-cancer agents that inhibit the poly (ADP-ribose) polymerase (PARP) family of enzymes.”
“Telephone counseling on genetic testing is as effective as in-person counseling for women at high risk for breast or ovarian cancer, a new study finds.
“While in-person genetic counseling is available for many women in cities, that’s typically not the case for women in rural areas, the researchers noted.
“This study included 988 women at risk for hereditary breast and/or ovarian cancer. All received a personalized brochure and other materials about genetic testing, and a genetic counselor reviewed the materials with each woman.
“About half the women met the counselor in person, while the other half talked with the counselor on the phone. The women were surveyed a week after counseling.
“Women were more likely to choose genetic testing after in-person counseling, but the researchers found no difference between in-person and phone counseling in terms of women’s levels of knowledge gained about genetic testing or in their anxiety, distress or quality of life.”
“Patients who years ago breathed a sigh of relief because their genetic tests showed they were not at increased risk of developing cancer are not necessarily home free, said Suzanne Mahon, DNSc, genetic counselor for Saint Louis University Cancer Center.
” ‘There is this group of people who think they don’t need to worry about getting cancer and believe they don’t have a high family risk of getting cancer, but unfortunately do,’ said Mahon, a professor in internal medicine at Saint Louis University.
“Mahon says her requests for genetic testing for breast cancer have more than tripled since 2013, when actress Angelina Jolie announced she had a double mastectomy because she was at genetic risk of developing breast cancer.
“Older genetic screenings were for the BRCA 1 and 2 genes, which are linked to the development of breast, ovarian, prostate, melanoma, pancreatic and other cancers.
“However a new generation of genetic tests can detect as many as 25 other, less common genes that show a familial predisposition to cancer.”
“Foundation Medicine, Inc. (NASDAQ: FMI) today announced that it has partnered with the Addario Lung Cancer Medical Institute (ALCMI) and Bonnie J. Addario Lung Cancer Foundation (ALCF) to launch a first of its kind, multi-center, international prospective study, the Genomics of Young Lung Cancer. This study aims to better inform treatment decisions in young adults with lung cancer by leveraging FoundationOne®, the only commercially available and validated comprehensive genomic profile, to look beyond the genomic alterations commonly associated with lung cancer and identify the novel and unique alterations that present in lung cancers in young adults. This insight, in combination with the expertise of leading academic institutions and peer-reviewed literature, will be applied to determine more effective treatment options and tailor therapies precisely for these distinct and underserved patients.
“In 2014, 224,000 new cases of lung cancer are expected to be diagnosed; 3,700 of these are expected to occur in patients under the age of 45. Eighty percent of new lung cancer diagnoses are made in former or never-smokers, and three percent of cancer diagnoses made in patients younger than 45 will be lung cancer1.
“ ‘Lung cancer presents in a unique manner in young adults, who often do not exhibit the characteristic symptoms and signs of a typical patient with lung cancer,’ said Steven Young, President and COO of ALCMI. ‘Despite an environment of rapidly expanding treatment options available for lung cancer, a lack of understanding of comprehensive testing for the molecular drivers of the disease specifically in young adults restricts the effective treatments available to patients at a tragically early stage in their lives. Through this initial study, we hope to address this gap in knowledge and access, and lay the groundwork to routinely identify more effective treatment options for these patients.’ ”
“Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.
“Every year in the UK, almost 12,000 people are diagnosed with melanoma, a form of skin cancer. About 1 in 20 people with melanoma have a strong family history of the disease. In these patients, pinpointing the genetic mutations that drive disease development allows dermatologists to identify people who should be part of melanoma surveillance programmes.
“The team found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma. These mutations deactivate the POT1 gene that protects the ends of our chromosomes from damage.”