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GENE FLAWS COMMON IN BLACKS WITH BREAST CANCER
Monday, 03 June 2013 11:01 Published in Health & FitnessThe study may help explain why black women have higher rates of breast cancer at young ages - and a worse chance of survival.
Doctors say these patients should be offered genetic counseling and may want to consider more frequent screening and prevention options, which can range from hormone-blocking pills to breast removal, as Jolie chose to do.
"We were surprised at our results," said the study leader, Dr. Jane Churpek, a cancer specialist at the University of Chicago. Too few black women have been included in genetic studies in the past and most have not looked for mutations to the degree this one did, "so we just don't have a good sense" of how much risk there is, she said.
Churpek gave results of the study Monday at an American Society of Clinical Oncology conference in Chicago. The researchers include Mary-Claire King, the University of Washington scientist who discovered the first breast cancer predisposition gene, BRCA1.
Jolie revealed a few weeks ago that she carries a defective BRCA1 gene, giving her up to an 87 percent risk of developing breast cancer and up to a 54 percent risk for ovarian cancer. The actress's mother had breast cancer and died of ovarian cancer, and her maternal grandmother also had ovarian cancer. An aunt recently died of breast cancer.
Children of someone with a BRCA mutation have a 50 percent chance of inheriting it.
In the U.S., about 5 to 10 percent of breast cancers are thought to be due to bad BRCA genes. Among breast cancer patients, BRCA mutations are carried by 5 percent of whites and 12 percent of Eastern European (Ashkenazi) Jews. The rates in other groups are not as well known.
The study involved 249 black breast cancer patients from Chicago area hospitals. Many had breast cancer at a young age, and half had a family history of the disease.
They were given complete gene sequencing for all 18 known breast cancer risk genes rather than the usual tests that just look for a few specific mutations in BRCA genes.
Gene flaws were found in 56, or 22 percent, of study participants; 46 of them involved BRCA1 or BRCA2 and the rest were less commonly mutated genes.
Harmful mutations were found in 30 percent of black women with "triple-negative breast cancer" - tumors whose growth is not fueled by estrogen, progesterone or the gene that the drug Herceptin targets. Doctors have long known that these harder-to-treat cases are more common in black women.
The National Cancer Institute, the Breast Cancer Research Foundation and Komen for the Cure paid for the study.
It included many younger women and those with a family history of cancer, and they are known to have higher rates of gene mutations that raise risk, said Rebecca Nagy, a genetics counselor at Ohio State University and president of the National Society of Genetic Counselors.
Still, "it has always stumped us" to see black families with lots of breast cancer but no mutations that can be found in ordinary testing for BRCA genes, she said.
That was the situation for Alicia Cook, 44, a Chicago woman whose grandmother died of breast cancer, mother died of ovarian cancer and two sisters have had breast cancer. When she was first diagnosed with breast cancer nearly 10 years ago, a test for BRCA mutations was negative.
Doctors said, "I'm sure there's something going on genetically" but they didn't have the tools to find it, Cook said.
Last year, she had a recurrence and a sister who was diagnosed with the disease learned she carried a BRCA1 mutation. Cook was retested for the same mutation and found to have it. Now she is telling her relatives in hopes that more of them will seek genetic counseling and be aware of their risk.
"You don't want to put people in fear, but knowledge is power," she said.
--- Online:
Breast cancer: HTTP://WWW.CANCER.NET/CANCER-TYPES/BREAST-CANCER
and HTTP://WWW.CANCER.GOV/CANCERTOPICS/FACTSHEET/RISK/BRCA
---
Marilynn Marchione can be followed at HTTP://TWITTER.COM/MMARCHIONEAP © 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Before making his major league debut, the St. Louis Cardinals pitcher had to wait out an hour-long rain delay.
"I think the worst part was just sitting around all day," Wacha said. "Once I threw the first pitch for a strike I really calmed down and was able to execute my pitches pretty well."
The end was pretty rocky for a bullpen minus closer Edward Mujica, victimized for a three-run ninth that spoiled Wacha's almost spotless showing in a soggy 4-2 loss to the Kansas City Royals on Thursday night.
"I'll never forget this day, that's for sure," Wacha said. "Even if I wasn't pitching. I'm not used to playing too many games at 2:30 in the morning."
Manager Mike Matheny said it was a shame Wacha's outing "was kind of going to fall on the back page."
Hall of Famer George Brett's debut as interim batting coach was a success and the Royals avoided a four-game sweep despite totaling just four hits in a marathon delayed an hour before the first pitch and another 4 hours, 32 minutes not long after the Royals took the lead with the bases loaded and none out in the top of the ninth.
It took 12 minutes to get the last six outs of a game that would have been a snappy 2 hours, 27 minutes without the rain.
From a near capacity crowd of 43,916, a couple hundred fans at most were around when the game scheduled to start at 7:15 p.m. CDT ended at 3:14 a.m.
Umpire crew chief Joe West opted for patience and declined to invoke a rule clause in the final season meeting between teams that would have wiped out the top of the ninth and declared the Cardinals 2-1 winners. Matheny and general manager John Mozeliak both lobbied on the field while crews got the field ready.
Matheny said the Cardinals had been in "constant contact with the league, and there's no real protest to file." He judged the playing conditions "bad."
"This comes down to one of my guys getting hurt, it's a big deal," the manager said.
The lengthy delay created a bit of a hardship for that crew, set to work a Cubs day game on Friday.
"We worry about that game when we get to that one," West said to a pool reporter. "We had to worry about this game tonight."
The Royals traveled to Texas to start a weekend series Friday night and the Cardinals begin a three-game series at home against the Giants.
"They've got to travel to Texas, we get to go home and go to bed," Matheny said.
Matheny paid a hefty price for giving Mujica a day off after earning four saves in four days. Jeff Francoeur homered on the second pitch from Mitchell Boggs, a curious choice to get the ball in the ninth given season-long woes that left him with a double-digit ERA and included a stint in the minors.
Boggs (0-3) faced two batters, retired neither and was loudly booed by a near-sellout crowd forced into a second rain delay. He was demoted May 3 after a 12.66 ERA and 12 walks in 10 2-3 innings. He has allowed a run in three of four appearances since returning on May 19, and none of the first three outings came with the game on the line.
Matheny said after the game that set-up man Trevor Rosenthal also had been unavailable because of a heavy workload.
"He's been up five days in a row," Matheny said. "He hasn't been in all five but he was ready to go. We've got to take care of you. You hate to sacrifice anything to do it, we needed the other guys to come in and pick up the slack."
Eric Hosmer, who had one RBI the previous 10 games, bounced a bases-loaded double over a drawn-in infield off Victor Marte.
The 21-year-old Wacha, who allowed a run on two hits in seven innings, was the third rookie to debut as a starter for the Cardinals and came close to matching John Gast and Tyler Lyons as first-game winners. Wacha retired the first 13 batters and set down the side in order every inning except the fifth, when Lorenzo Cain doubled with one out and scored on Elliott Johnson's single.
Wacha made the Cardinals' fastest jump from draft day to the majors in 25 years after getting picked in the first round last June.
Louis Coleman (1-0) allowed a walk in 1 1-3 innings and Greg Holland finished for his eighth save in 10 chances and first since May 1. Holland's blown save on May 6 against the White Sox was his only other chance this month.
Francoeur had been batting .156 in May and didn't start for the second straight game, entering in a double switch in the seventh. He ended the Royals' 59-inning slump without a homer with his second of the season and first since April 10.
Allen Craig and David Freese had two-out RBI singles in the first off Jeremy Guthrie to give the Cardinals the lead. They left the bases loaded in the second, wasting a single by Wacha in his first career at-bat, and stranded two in the fourth.
Wacha had a chance to score from second on Carlos Beltran's hit, but the Cardinals didn't risk a play at the plate with the bases loaded, one out and the heart of the order coming up. Matt Holliday grounded into a force play at the plate and Craig grounded out to end the inning.
NOTES: Wacha is the eighth rookie pitcher to suit up for St. Louis this year and seventh to play. Reliever Michael Blazek was optioned to the minors earlier in the day without appearing in a game. ... Shelby Miller (5-3, 2.02) opposes the Giants' Matt Cain (4-2, 5.00) in the opener of a three-game series Friday. The Royals begin a three-game set at Texas with Wade Davis (3-4, 5.71) opposing Derek Holland (4-2, 2.97). ... Cardinals reliever Randy Choate was the winner Wednesday for his first decision since July 24, 2011, a span of 103 appearances. It's the third-longest streak in major league history.
© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
DECONTAMINATING PATIENTS CUTS HOSPITAL INFECTIONS
Friday, 31 May 2013 06:54 Published in Health & FitnessWashing everyone with antiseptic wipes and giving them antibiotic nose ointment reduced bloodstream infections dramatically in the study at more than 40 U.S. hospitals.
The practice could prove controversial, because it would involve even uninfected patients and because experts say it could lead to germs becoming more resistant to antibiotics. But it worked better than screening methods, now required in nine states.
The study found that 54 patients would need to be decontaminated to prevent one bloodstream infection.
Nevertheless, the findings are "very dramatic" and will lead to changes in practice and probably new laws, said Dr. William Schaffner, a Vanderbilt University infectious-disease specialist who was not involved in the research. Some hospitals are already on board.
The study targeted ICU patients, who tend to be older, sicker, weaker and most likely to be infected with dangerous bacteria, including drug-resistant staph germs.
The decontamination method worked like this: For up to five days, 26,000 ICU patients got a nose swab twice a day with bacteria-fighting ointment, plus once-daily bathing with antiseptic wipes.
Afterward, they were more than 40 percent less likely to get a bloodstream infection of any type than patients who had been screened and isolated for a dangerous germ called MRSA, or methicillin-resistant Staphylococcus aureus.
In the year before the experiment began, there were 950 bloodstream infections in intensive care patients at the hospitals studied. The results suggest that more than 400 of those could have been prevented if all hospitals had used the decontamination method.
"We've definitively shown that it is better to target high-risk people," not high-risk germs, said lead author Dr. Susan Huang, a researcher and infectious-disease specialist at the University of California, Irvine.
The hospitals in the study are all part of the Hospital Corporation of America system, the nation's largest hospital chain. HCA spokesman Ed Fishbough said the 162-hospital company is adopting universal ICU decontamination.
The study was published online Wednesday in the New England Journal of Medicine.
The study focused on the MRSA germ. It can live on the skin or in the nose without causing symptoms but can be life-threatening when it reaches the bloodstream or vital organs. It is especially dangerous because it is resistant to many antibiotics.
More than 70,000 ICU patients were randomly selected to get one of three treatments: MRSA screening and isolation; screening, isolation and decontamination of MRSA carriers only; and universal decontamination without screening. Partial decontamination worked better than just screening, and universal decontamination was best.
About a decade ago, hospital-linked invasive MRSA infections sickened more than 90,000 people nationwide each year, leading to roughly 20,000 deaths.
As hospitals improved cleanliness through such measures as better hand-washing and isolating carriers of deadly germs, those numbers dropped by about a third, with fewer than 10,000 deaths in 2011, according to the Centers for Disease Control and Prevention.
The CDC has been recommending screening and isolation in certain cases. Now it's having experts review the results and help determine whether the agency should revise its recommendations, said the CDC's Dr. John Jernigan.
"It is a very important finding. It advances our understanding of how best to control infections caused by MRSA" and other germs, Jernigan said.
The CDC and the federal Agency for Healthcare Research and Quality helped pay for the study. Dr. Carolyn Clancy, who heads the research agency, said the findings have "the potential to influence clinical practice significantly and create a safer environment where patients can heal without harm."
Jernigan said the decontamination approach is much simpler than screening and isolation. But he said its costs need to be studied.
Huang said the five-day nose treatment costs about $35 for brand-name ointment but only $4 for a generic version. The antiseptic wipes cost only about $3 to $5 more per day than usual washing methods, she said. But those costs might be offset by other savings from avoiding widespread screening and isolation, she said.
Intensive care patients are already routinely bathed. The study just swapped soap with wipes containing a common antiseptic. Some study authors have received fees from makers of antiseptic wipes or have done research or unpaid consulting for those companies.
The nose ointment treatment is more controversial because it could cause more germs to become resistant to the antibiotic, Jernigan said.
"That's something we're going to have to very closely monitor if this practice is implemented widely," he said.
An editorial accompanying the study voices similar concerns and notes that research published earlier this year found that using just antiseptic wipes on ICU patients reduced bloodstream infections. Two infection control specialists at Virginia Commonwealth University wrote the editorial.
Editorial co-author Dr. Michael Edmond said his university's hospital is among those that already use antiseptic wipes on ICU patients.
While MRSA screening and isolation is widely accepted, Edmond said that approach "takes a toll on patients." Isolating patients who test positive for MRSA but don't have symptoms makes patients angry and depressed, and studies have shown that isolated patients are visited less often by nurses and tend to have more bedsores and falls, he said.
--- Online:
NEJM: HTTP://WWW.NEJM.ORG
MRSA: HTTP://WWW.CDC.GOV
--- AP Medical Writer Lindsey Tanner can be reached at HTTP://WWW.TWITTER.COM/LINDSEYTANNER
© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
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