MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer-Reference-Cited by-同舟云学术

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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

Published:2010-05-21 Issue:1 Volume:8 Page:
ISSN:1897-4287
Container-title:Hereditary Cancer in Clinical Practice
language:en
Short-container-title:Hered Cancer Clin Pract

Author:

Talseth-Palmer Bente A,McPhillips Mary,Groombridge Claire,Spigelman Allan,Scott Rodney J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Oncology

Link

http://link.springer.com/content/pdf/10.1186/1897-4287-8-5.pdf

Reference46 articles.

1. Lynch HT, Boland CR, Gong G, Shaw TG, Lynch PM, Fodde R, Lynch JF, de la Chapelle A: Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet 2006, 14: 390–402. 10.1038/sj.ejhg.5201584

2. Lawes DA, SenGupta SB, Boulos PB: Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. Br J Surg 2002, 89: 1357–1369. 10.1046/j.1365-2168.2002.02290.x

3. Lu K: Endometrial cancer in women with HNPCC. Int J Gynecol Cancer 2005, 15: 400–401. 10.1111/j.1525-1438.2005.t01-1-abst_4.x

4. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994, 368: 258–261. 10.1038/368258a0

5. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993, 75: 1027–1038. 10.1016/0092-8674(93)90546-3

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1. Geschlechtsspezifische Unterschiede in der Entwicklung kolorektaler Karzinome bei Lynch-Syndrom-Betroffenen – ein systematisches Review;Die Chirurgie;2024-08-15

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3. Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria;Human Molecular Genetics;2024-02-04

4. MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome;Scientific Reports;2023-11-01

5. PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps;Global Medical Genetics;2023-01

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