NDLI: Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

Content Provider	Springer Nature Link
Author	skowicz, Monika Bogdava, Natalia Bermisheva, Marina Takhirova, Zalina Antonenkova, Natalia Khusnutdiva, Elza Bremer, Michael Christiansen, Hans Park Simon, Tjoung Won Hillemanns, Peter Dörk, Thilo
Copyright Year	2013
Abstract	Inherited mutations in PALB2 are known to be associated with increased breast cancer risk. We aimed to investigate the prevalence and risk association of a recurrent PALB2 mutation, c.509_510delGA, among 3,924 unselected breast cancer patients from Belarus, Russia or Germany. High-resolution melting analyses and direct sequencing identified the c.509_510delGA allele in 3/1,008 (0.3 %) German breast cancer patients, 2/994 (0.2 %) Russian breast cancer patients and 5/1,922 (0.3 %) Byelorussian breast cancer patients. Breast tumours were mainly estrogen receptor positive and included both ductal and lobular histology. Only one of the ten patients had a first-degree family history of breast cancer. The mutation was not detected in 2,827 healthy females from the same populations, confirming the association of PALB2c.509_510delGA with breast cancer risk (p = 0.007). These data indicate that the PALB2c.509_510delGA mutation is prevalent in about 1 in 400 breast cancer patients from Central and Eastern Europe, and the low occurrence of familial clustering is consistent with a moderate penetrance of this mutation.
Starting Page	137
Ending Page	142
Page Count	6
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	13
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2013-09-24
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Genetic susceptibility DNA double-strand break repair Chromosome breakage syndrome Hereditary breast cancer Lobular breast cancer Founder mutation Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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