Breast Cancer Patients With High Risk Gene Diagnosed Six Years Earlier Than Generation Before
October 23, 2011
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Women having a deleterious gene mutation are diagnosed with breast cancer six years earlier than relatives of the previous generation who also had the illness and/or ovarian cancer, according to new analysis from The University of Texas M. D. Anderson Cancer Center.
The findings, presented in a poster session at the 2009 Breast Cancer Symposium, could have an impact on how girls at highest risk for the illness are counseled and even screened inside the future, explained Jennifer Litton, M.D., assistant professor in M. D. Anderson’s Department of Breast Medical Oncology.
“In our practice, we’ve noticed that girls having a identified deleterious BRCA gene mutation are being diagnosed earlier with the disease than their moms or aunts,” said Litton, M.D., the study’s very first author. “With this study, we looked at ladies who had been each treated and had their BRCA testing at M. D. Anderson to determine if what we had been seeing anecdotally was consistent scientifically.”
It’s estimated that five to 10 percent of all breast cancers are related to either the BRCA1 or two mutation, both of which are associated with an increased threat for breast and ovarian cancers. Based on the American Cancer Society (ACS), females with BRCA1 or 2 have a 60 percent lifetime danger of developing breast cancer, compared to a 12 percent risk for girls inside the general population.
Given their greater danger, females with identified BRCA mutations and/or whose mothers and/or aunts from either side of the household have the mutation are screened beginning at age 25. In 2007, as a complement to mammography, ACS guidelines added Magnetic Resonance Imaging (MRI) in the surveillance of these girls at highest threat, as MRI is thought to catch smaller tumors even earlier. Consideration of prophylactic mastectomies is also a component of their surveillance, said Litton.
“Currently, BRCA positive ladies are counseled that they won’t must worry about breast cancer till a certain age. Nonetheless, our findings show that we may actually begin seeing the disease even earlier in future generations. We must make changes accordingly in order to best advise and care for these females at greatest risk,” Litton said.
For the retrospective study, the researchers identified 132 BRCA positive women with breast cancer who participated in a high-risk protocol via M. D. Anderson’s Clinical Cancer Genetics Plan among 2003 and 2009. Reviewing each woman’s pedigree (loved ones tree), 107 were identified to have a female loved ones member inside the previous generation who also had a BRCA-related cancer, either breast or ovarian. Age at diagnosis, location of mutation and birth year had been recorded in each the older (gen1) and younger (gen2) ladies.
The study identified that in gen2, the median age of diagnosis was 42, compared to age 47 in gen1. In comparing generations within a household, the median distinction was six years. Comparing decades of birth in all born soon after 1950, gen2 had been diagnosed earlier than gen1. When stratified by BRCA1 or 2 mutation, the median age of diagnosis in BRCA1 and BRCA2 positive gen2 women was 42 and 44, respectively, and 43 and 50, respectively in BRCA1 positive and BRCA2 positive gen1 females.
“These findings are certainly concerning and could have implications on the screening and genetic counseling of these females,” Litton said. “In BRCA positive girls with breast cancer, we actually might be seeing true anticipation the phenotype or cancer coming out earlier per generation. This suggests a lot more than the mutation could be involved, perhaps lifestyle and environmental elements are also coming into play.”
The research reconfirms that females with BRCA mutations ought to continue to be screened per the guidelines – mammography, MRI and consideration of prophylactic surgeries but perhaps with increased suspicion and even at an earlier age, stated Litton, who notes that the addition of MRI screening may possibly account for a number of the change in diagnosis observed inside the study.
Further analysis is necessary given the relatively small number of females inside the cohort along with the possibility of recall bias, as the gen2 ladies had been offering their family histories, Litton explained. As follow up study, Litton plans to appear into biological basis for potential earlier diagnosis.
The study was funded by the Nellie B. Connally Breast Cancer Investigation Fund
In addition to Litton, other authors on the all-M. D. Anderson study include: Gabriel Hortobagyi, M.D.; Banu Arun, M.D., the study’s senior author; Kaylene Ready; Angelica Gutierrez Barrera; Huiqin Chen, all of the Department of Breast Medical Oncology; Funda Meric-Bernstam, M.D., Department of Surgery; and Karen Lu, M.D., Department of Gynecologic Oncology.
About M. D. Anderson
The University of Texas M. D. Anderson Cancer Center in Houston ranks as 1 of the world’s most respected centers focused on cancer patient care, investigation, education and prevention. M. D. Anderson is 1 of only 40 comprehensive cancer centers designated by the National Cancer Institute. For six of the past eight years, such as 2009, M. D. Anderson has ranked No. 1 in cancer care in “America’s Best Hospitals,” a survey published annually in U.S. News & World Report.
Source: University of Texas M. D. Anderson Cancer Center
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