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Literature DB >> 24371622

A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.

Ping Gong¹, Sarah Charles², Norman Rosenblum³, Zoe Wang¹, Agnieszka K Witkiewicz¹.

Abstract

► Endometrial cancer with BRCA2 mutation and double heterozygosity for Lynch syndrome. ► Loss of MLH1 and PMS2 by immunohistochemical stain. ► MSH1 and MSH6 gene mutations by genomic sequencing.

Entities: Disease Gene

Keywords: BRCA2 mutation; Double heterozygosity; Endometrial cancer; Lynch syndrome

Year: 2012 PMID： 24371622 PMCID： PMC3860713 DOI： 10.1016/j.gynor.2012.03.001

Source DB: PubMed Journal: Gynecol Oncol Case Rep ISSN： 2211-338X

10 in total

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3. Microsatellite instability in colorectal cancer: from molecular oncogenic mechanisms to clinical implications.

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4. A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families.

Authors: Kathleen Y Yang; Aaron B Caughey; Sarah E Little; Michael K Cheung; Lee-May Chen
Journal: Fam Cancer Date: 2011-09 Impact factor: 2.375

5. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Authors: Maran J W Berends; Ying Wu; Rolf H Sijmons; Rob G J Mensink; Tineke van der Sluis; Jannet M Hordijk-Hos; Elisabeth G E de Vries; Harry Hollema; Arend Karrenbeld; Charles H C M Buys; Ate G J van der Zee; Robert M W Hofstra; Jan H Kleibeuker
Journal: Am J Hum Genet Date: 2002-01 Impact factor: 11.025

Review 6. DNA mismatch repair deficiency in endometrial carcinoma.

Authors: Yevgeniy Karamurzin; Joanne K L Rutgers
Journal: Int J Gynecol Pathol Date: 2009-05 Impact factor: 2.762

7. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.

Authors: Mary-Claire King; Joan H Marks; Jessica B Mandell
Journal: Science Date: 2003-10-24 Impact factor: 47.728

Review 8. Current and emerging trends in Lynch syndrome identification in women with endometrial cancer.

Authors: Kimberly E Resnick; Heather Hampel; Richard Fishel; David E Cohn
Journal: Gynecol Oncol Date: 2009-04-17 Impact factor: 5.482

9. Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes.

Authors: Margaret Smith; Susan Fawcett; Emanouil Sigalas; Richard Bell; Sophie Devery; Nikolina Andrieska; Ingrid Winship
Journal: Fam Cancer Date: 2007-07-17 Impact factor: 2.375

10. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

Authors: I Thiffault; N Hamel; T Pal; S McVety; V A Marcus; D Farber; S Cowie; J Deschênes; W Meschino; F Odefrey; D Goldgar; T Graham; S Narod; A K Watters; E MacNamara; D Du Sart; G Chong; W D Foulkes
Journal: Br J Cancer Date: 2004-01-26 Impact factor: 7.640