Faculty Opinions recommendation of Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

2002 ◽  
Author(s):  
Stephen Jackson
Keyword(s):  
Breast Cancer ◽  
Missense Mutations ◽  
Allelic Variants

scholarly journals Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

2002 ◽  
Vol 99 (2) ◽  
pp. 925-930 ◽  
Author(s):  
S. P. Scott ◽  
R. Bendix ◽  
P. Chen ◽  
R. Clark ◽  
T. Dork ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Missense Mutations ◽  
Allelic Variants

Identification of germline missense mutations and rare allelic variants in theATM gene in early-onset breast cancer

1999 ◽  
Vol 26 (4) ◽  
pp. 286-294 ◽  
Author(s):  
Louise Izatt ◽  
Jill Greenman ◽  
Shirley Hodgson ◽  
David Ellis ◽  
Sally Watts ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Missense Mutations ◽  
Early Onset Breast Cancer ◽  
Allelic Variants

Vitamin D Receptor (VDR) Allelic Variants Correlating with Response to Vitamin D3 Supplementation in Breast Cancer Survivors

2021 ◽  
pp. 1-14
Author(s):  
Elham Kazemian ◽  
Sayed Hossein Davoodi ◽  
Mohammad Esmaeil Akbari ◽  
Nariman Moradi ◽  
Safoora Gharibzadeh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Cancer Survivors ◽  
Vitamin D Receptor ◽  
Vitamin D3 ◽  
Breast Cancer Survivors ◽  
Allelic Variants ◽  
Vitamin D3 Supplementation

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

2007 ◽  
Vol 107 (2) ◽  
pp. 281-288 ◽  
Author(s):  
Teresa Tapia ◽  
Alejandro Sanchez ◽  
Maricarmen Vallejos ◽  
Carolina Alvarez ◽  
Mauricio Moraga ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Allelic Variants ◽  
Chilean Women

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

2014 ◽  
Vol 41 (2) ◽  
pp. 1103-1107 ◽  
Author(s):  
Abdul Hameed Baloch ◽  
Shakeela Daud ◽  
Nafeesa Raheem ◽  
Muhammad Luqman ◽  
Adeel Ahmad ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Missense Mutations

scholarly journals RECQ1 Helicase in Genomic Stability and Cancer

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 622 ◽  
Author(s):  
Subrata Debnath ◽  
Sudha Sharma
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Genetic Diseases ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Telomere Maintenance ◽  
Breast Cancer Susceptibility Gene ◽  
Missense Mutations ◽  
Dna Helicases ◽  
Rare Genetic Diseases

RECQ1 (also known as RECQL or RECQL1) belongs to the RecQ family of DNA helicases, members of which are linked with rare genetic diseases of cancer predisposition in humans. RECQ1 is implicated in several cellular processes, including DNA repair, cell cycle and growth, telomere maintenance, and transcription. Earlier studies have demonstrated a unique requirement of RECQ1 in ensuring chromosomal stability and suggested its potential involvement in tumorigenesis. Recent reports have suggested that RECQ1 is a potential breast cancer susceptibility gene, and missense mutations in this gene contribute to familial breast cancer development. Here, we provide a framework for understanding how the genetic or functional loss of RECQ1 might contribute to genomic instability and cancer.

scholarly journals CDH1mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk

2001 ◽  
Vol 98 (2) ◽  
pp. 199-204 ◽  
Author(s):  
Haixin Lei ◽  
Sara Sjöberg-Margolin ◽  
Sima Salahshor ◽  
Barbro Werelius ◽  
Eva Jandáková ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Lobular Breast Cancer ◽  
Allelic Variants

Abstract 3675: HER2 missense mutations in breast cancer cells do not alter HER2 internalization or sensitivity to T-DM1

2020 ◽  
Author(s):  
Hiroaki Akamatsu ◽  
Rosa Mino ◽  
Marcel Mettlen ◽  
Dan Ye ◽  
Dhivya R. Sudhan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Cells ◽  
Breast Cancer Cells ◽  
Missense Mutations

ATM missense mutations are frequent inpatients with breast cancer

2003 ◽  
Vol 145 (2) ◽  
pp. 115-120 ◽  
Author(s):  
Steve S Sommer ◽  
Zefei Jiang ◽  
Jinong Feng ◽  
Carolyn H Buzin ◽  
Jian Zheng ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Missense Mutations
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