NDLI: Lynch Syndrome in high risk Ashkenazi Jews in Israel

Content Provider	Springer Nature Link
Author	Goldberg, Yael Kedar, Inbal Kariiv, Revital Halpern, Naama Plesser, Morasha Hubert, Ayala Kaduri, Luna Sagi, Michal Lerer, Israela Abeliovich, Dvorah Hamburger, Tamar Nissan, Aviram Goldshmidt, Hach Solar, Irit Geva, Ravit Strul, Hana Rosner, Guy Baris, Hagit Levi, Zohar Peretz, Tamar
Copyright Year	2013
Abstract	Lynch Syndrome is caused by mutations in DNA mismatch repair genes. Diagnosis is not always trivial and may be costly. Information regarding incidence, genotype-phenotype correlation, spectrum of mutations and genes involved in specific populations facilitate the diagnostic process and contribute to clinical work-up. To report gene distribution, mutations detected and co-occurrence of related syndromes in a cohort of Ashkenazi Jews in Israel. Patients were identified in dedicated high risk clinics in 3 medical centers in Israel. Diagnostic process followed a multi-step scheme. It included testing for founder mutations, tumor testing, gene sequencing and MLPA. Lynch Syndrome was defined either by positive mutation testing, or by clinical criteria and positive tumor analysis. We report a cohort of 75 Ashkenazi families suspected of Lynch Syndrome. Mutations were identified in 51/75 (68 %) families: 38 in MSH2, 9 in MSH6, and 4 in MLH1. 37/51 (73 %) of these families carried one of the 3 ‘Ashkenazi’ founder mutations in MSH2 or MSH6. Each of the other 14 families carried a private mutation. 3 (6 %) were large deletions. Only 20/51 (39 %) families were Amsterdam Criteria positive; 42 (82 %) were positive for the Bethesda guidelines and 9 (18 %) did not fulfill any Lynch Syndrome criteria. We report C-MMRD and co-occurrence of BRCA and Lynch Syndrome in our cohort. Mutation spectra and gene distribution among Ashkenazi Jews are unique. Three founder Lynch Syndrome mutations are found in 73 % families with known mutations. Among the three, MSH2 and MSH6 are the most common. These features affect the phenotype, the diagnostic process, risk estimation, and genetic counseling.
Starting Page	65
Ending Page	73
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	13
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2013-08-30
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Lynch syndrome HNPCC BRCA C-MMRD Israeli Jews Ashkenazi Colorectal cancer Founder mutation MSI Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
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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