“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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“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.”
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.”
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.”
“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.”
“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.”