No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer

Breast Cancer Research : BCR
Ian G CampbellKathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer

Abstract

Mutations in BRCA1, BRCA2, ATM, TP53, CHK2 and PTEN account for many, but not all, multiple-case breast and ovarian cancer families. The histone acetyltransferase gene EP300 may function as a tumour suppressor gene because it is sometimes somatically mutated in breast, colorectal, gastric and pancreatic cancers, and is located on a region of chromosome 22 that frequently undergoes loss of heterozygosity in many cancer types. We hypothesized that germline mutations in EP300 may account for some breast cancer families that include cases of gastric, pancreatic and/or colorectal cancer. We screened the entire coding region of EP300 for mutations in the youngest affected members of 23 non-BRCA1/BRCA2 breast cancer families with at least one confirmed case of gastric, pancreatic and/or colorectal cancer. These families were ascertained in Australia through the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Denaturing HPLC analysis identified a heterozygous alteration at codon 211, specifically a GGC to AGC (glycine to serine) alteration, in two individuals. This conservative amino acid change was not within any known functional domains of EP300. The frequency of the Ser211 variant did not differ si...Continue Reading

References

Dec 1, 1994·Journal of Medical Genetics·D EcclesN E Morton
Feb 14, 1998·International Journal of Cancer. Journal International Du Cancer·F AllioneD Birnbaum
Jul 2, 1998·British Journal of Cancer·D M EcclesI G Campbell
Mar 4, 2000·Nature Genetics·S A GaytherC Caldas
Mar 25, 2000·Molecular and Cellular Biology·A W SnowdenN D Perkins
May 29, 2000·Genes, Chromosomes & Cancer·M ChaffanetM J Pébusque
Aug 24, 2000·International Journal of Cancer. Journal International Du Cancer·E J BryanI G Campbell
Nov 21, 2000·BioTechniques·J I SpiegelmanP J Oefner
May 30, 2001·Cancer Genetics and Cytogenetics·R SudJ D Delhanty
Aug 14, 2002·World Journal of Gastroenterology : WJG·Chong-Zhi ZhouLin He
Oct 18, 2002·International Journal of Cancer. Journal International Du Cancer·Emma J BryanIan G Campbell
Mar 12, 2008·World Journal of Gastroenterology : WJG·Chong-Zhi ZhouZhi-Hai Peng
Jun 10, 2011·Journal of Medical Genetics·D G EvansD M Eccles

❮ Previous
Next ❯

Citations

Apr 11, 2013·European Journal of Human Genetics : EJHG·Giovanni CorsoFranco Roviello
Mar 2, 2006·Breast Cancer Research : BCR·Graham J MannUNKNOWN Kathleen Cuningham Consortium for Research in Familial Breast Cancer
Nov 1, 2007·Breast Cancer Research and Treatment·Kylie L GorringeIan G Campbell
Dec 21, 2007·Breast Cancer Research and Treatment·Kylie L GorringeIan G Campbell
Sep 26, 2007·Human Molecular Genetics·Ahmad MiremadiCarlos Caldas
Dec 6, 2006·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Louise H WilliamsIan G Campbell

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

ESEfinder
GraphPad
InStat
DHPLC Melt
Varian Star Reviewer

Related Concepts

Related Feeds

Breast Invasive Carcinoma

Invasive breast cancers indicate a spread into breast tissues and lymph nodes. Here are the latest discoveries pertaining to breast invasive carcinomas.

Breast Cancer: Chemo-Resistance

Some cancers are difficult to treat and aggressive including the "triple-negative" breast cancer. This type of cancer is chemoresistant even before chemotherapy begins. Here are the latest discoveries chemo-resistance in breast cancer.

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Breast Invasive Carcinoma (Keystone)

Invasive breast cancers indicate a spread into breast tissues and lymph nodes. Here are the latest discoveries pertaining to breast invasive carcinomas.

Related Papers

Breast Cancer Research : BCR
Aaron G LewisKathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
Breast Cancer Research : BCR
A MarshKathleen Cuningham Foundation for Research into Familial Breast Cancer
© 2022 Meta ULC. All rights reserved