Navigation Links
Mutation In PALB2 Elevates Risk of Cancer

Cancer is a complex and common disease caused by a combination of both genetic and environmental factors.

Recent research shows that the constitutional mutation in PALB2 gene elevates the risk of breast cancer four-fold. //

Previous studies have shown that genes are responsible for at least 5–10 per cent of all cases of breast cancer. The two major familial breast cancer susceptibility genes BRCA1 and BRCA2 only explain 20-30 per cent of families with site-specific female breast cancer, which suggests the contribution of additional susceptibility genes.

According to Dr Robert Winqvist, who coordinates the research effort, the identification of these genes may help to clarify the genetic background contributing to breast cancer and suggest novel pharmaceutical targets. It could also lead to genetic screening that identifies individuals at increased breast cancer risk and result in improved prevention efforts and treatment.

About a year ago, Dr Bing Xia and Professor David Livingston at the Dana-Farber Cancer Institute in Boston identified a novel BRCA2 binding factor, PALB2 that regulates certain key functions of normal BRCA2 activity. The next step was to set out to evaluate the newly detected PALB2 gene as a potential heritable breast cancer susceptibility candidate by screening for disease-related alterations. The results of this international research effort were recently published in Nature.

The research first involved comprehensive screening for genetic aberrations in 113 Finnish breast cancer families. The same constitutional mutation in PALB2 was observed in three families. It was later showed that the relevant mutant protein is deficient in its ability to support the kinds of DNA damage responses in which PALB2 normally participates. The mutation was further also investigated in 1,918 specimens from an unselected series of Finnish breast cancer individuals.

This study revealed 18 mutation-posi tive individuals, about one per cent of the studied patients, most of whom turned out to have a familial pattern of disease development. The study also involved 141 unselected male breast cancer patients, 188 familial and 288 unselected colorectal cancers, as well as 164 familial and 475 unselected prostate cancer patients.

In prostate cancer, one multigenerational cancer family was found where cancer occurred in several generations and all patients showed the single mutation in PALB2 that was studied. According to Winqvist, this suggests that this Finnish founder mutation may be important in heritable prostate cancer as well. Male breast cancer and colorectal cancer cases did not display the mutation.

The constitutional mutation elevates the risk of breast cancer four-fold 'Present results show that the discovered PALB2 mutation elevates the risk of breast cancer four-fold. However, we still need more research to better assess the effect on cancer development. As the comprehensive mutation analysis was originally conducted on only 113 cancer families, it may be that there still are other PALB2 genetic defects accounting for heritable breast and prostate cancer susceptibility. Recent results also imply that PALB2 might be a cancer susceptibility gene in other populations as well.

It's been shown that two of the mutations identified in Fanconi anemia patients in non-Finnish populations seem to be associated with familial breast cancer,' says Winqvist. Winqvist points out that, in spite of recent advances, known factors can only explain a fraction of heritable susceptibility to breast cancer. He is nonetheless disposed to believe that the evaluation of yet other biologically significant factors will in time improve the situation. 'Hopefully, increased knowledge of underlying mechanisms will provide better conditions for cancer prevention, diagnostics and treatment,' Winqvist says.



Source-Eurekalert
PRI
'"/>




Related medicine news :

1. Mutation connected to Osteoporosis
2. Stem Cells Have Few Mutations
3. Gene Mutation Causes Ovarian Failure
4. Mutations in NOTCH1 cause an early developmental defect in the aortic valve
5. A Word Of Caution: Routine Screening For Breast Cancer Mutation Not Advisdable
6. Coffee Reduces Risk of Breast Cancer in BRCA1 Mutation Carriers
7. CCR5 Mutation Confers Immunity Against HIV But Not Against West Nile Virus Illness
8. Wound Healing Accelerated By Mutation In Deafness Gene
9. No Mutation Of Bird Flu Virus: WHO
10. Gene Mutation May Influence Age at Onset of Parkinsons Disease
11. Menin Gene Mutation made Insulin Secreting Cells to Proliferate
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/22/2017)... (PRWEB) , ... August 22, 2017 , ... ... of Anti-Aging Medicine recently spoke at a popular international aesthetics conference for medical ... had on restoring his patients’ health and his growing practice. , Dr. ...
(Date:8/22/2017)... ... August 22, 2017 , ... Five Star Glass is new to the Texas market, ... replacement of auto glass for most makes and models, in Grand Prairie, TX, located in ... , They have been a family owned business for the past 40 years with 32 ...
(Date:8/22/2017)... ... , ... “Glimpses Of Light”: is a unique and thought inspiring guide ... creation of published author, J.M. Shepherd, a writer, teacher, traveler, and metaphysician, the author ... , Shepherd shares, “Love is one of the least understood and yet most sought-after ...
(Date:8/21/2017)... (PRWEB) , ... August 22, 2017 , ... PracticeMatch, a ... to help healthcare employers connect with physicians and advanced practitioners like nurse practitioners ... career fairs in August through November of this year. The online career fairs ...
(Date:8/21/2017)... (PRWEB) , ... August 21, 2017 , ... ... today announced that it has become the Official Technology Partner of North Country ... AES (Advanced Event Systems) volleyball software, along with providing sport management software ...
Breaking Medicine News(10 mins):
(Date:8/15/2017)... Aug. 15, 2017 Diplomat Pharmacy, Inc. (NYSE: ... Michigan residents. Naloxone is ... retail pharmacy, G-3320 Beecher Road. ... Food and Drug Administration, is intended to block or ... breathing, and loss of consciousness. The medication is often ...
(Date:8/11/2017)... 2017 DarioHealth Corp. (NASDAQ: DRIO), a leading ... data solutions, today announced that it will release its ... host a conference call at 9:00am ET. The Company ... results and its strategy and outlook for the remainder ... Erez Raphael , Chief Executive Officer, and Zvi ...
(Date:8/7/2017)... Zimmer Biomet Holdings, Inc. (NYSE and SIX: ZBH), ... Board of Directors has approved the payment of a quarterly ... The cash dividend of ... 27, 2017 to stockholders of record as of the close ... are subject to approval of the Board of Directors and ...
Breaking Medicine Technology: