نتایج جستجو برای: chek2

تعداد نتایج: 669  

Journal: :Human molecular genetics 2007
Nichola Johnson Olivia Fletcher Claire Palles Matthew Rudd Emily Webb Gabrielle Sellick Isabel dos Santos Silva Valerie McCormack Lorna Gibson Agnes Fraser Angela Leonard Clare Gilham Sean V Tavtigian Alan Ashworth Richard Houlston Julian Peto

Rare inactivating mutations in BRCA1, BRCA2, ATM, TP53 and CHEK2 confer relative risks for breast cancer between about 2 and more than 10, but more common variants in these genes are generally considered of little or no clinical significance. Under the polygenic model for breast cancer carriers of multiple low-penetrance alleles are at high risk, but few such alleles have been reliably identifi...

2016
Edenir Inêz Palmero Bárbara Alemar Lavínia Schüler-Faccini Pierre Hainaut Carlos Alberto Moreira-Filho Ingrid Petroni Ewald Patricia Koehler dos Santos Patricia Lisbôa Izetti Ribeiro Cristina Brinkmann de Oliveira Florence Le Calvez Kelm Sean Tavtigian Silvia Liliana Cossio Roberto Giugliani Maira Caleffi Patricia Ashton-Prolla

In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a ...

Journal: :Blood 2006
Matthew F Rudd Gabrielle S Sellick Emily L Webb Daniel Catovsky Richard S Houlston

We conducted a large-scale association study to identify low-penetrance susceptibility alleles for chronic lymphocytic leukemia (CLL), analyzing 992 patients and 2707 healthy controls. To increase the likelihood of identifying disease-causing alleles we genotyped 1467 coding nonsynonymous single nucleotide polymorphisms (nsSNPs) in 865 candidate cancer genes, biasing nsSNP selection toward thos...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

2013
Alastair D MacKenzie Ross Martin G Cook Heung Chong Mehnaz Hossain Hardev S Pandha Dorothy C Bennett

The best-established function of the melanoma-suppressor p16 is mediation of cell senescence, a permanent arrest following cell proliferation or certain stresses. The importance of p16 in melanoma suggests indolence of the other major senescence pathway through p53. Little or no p53 is expressed in senescent normal human melanocytes, but p16-deficient melanocytes can undergo p53-mediated senesc...

Journal: :Hereditary Cancer in Clinical Practice 2007
Cezary Cybulski

Epidemiologic research conducted over the last two decades has led us to believe that inherited factors play an important role in the aetiology of prostate cancer, but the genes which underlie the inherited susceptibility are elusive. The most compelling associations to date are with genes involved in DNA damage repair, including BRCA2. In Poland we have initiated a programme to identify DNA va...

2015
Michalina Tomys Marzena Skrzypczak-Zielinska Marzena Jasinowska Andrzej Plawski Ursula Froster

Breast cancer is the most commonly occurring cancer among women. The disease frequently attacks women at a young age. The German population has been greatly affected by breast cancer with approximately 74,500 females and 600 males being diagnosed with the disease in 2012 alone. In many instances the cause of breast cancer is unknown. Genetic factors that greatly contribute to breast cancer are ...

2015
Xiaoling Xu Jiwen Wang Shuang-Mei Zhu Ming Yang Yun Fang An Zhao Qian Song Weimin Mao Qing-Yi Wei

BACKGROUND Esophageal squamous cell carcinoma (ESCC) is very common in China and is also one of the most common cancers worldwide. The purpose of this study was to examine the associations between genetic variants of various cancer-related genes and the risk of ESCC. METHODS In this study, we first examined the association between 18 potentially disruptive genetic variants of 17 genes, includ...

Journal: :Oncology nursing forum 2014
Suzanne M Mahon

Most efforts to identify individuals who have a hereditary predisposition for developing breast cancer had focused on the BRCA1 and BRCA2 genes. Less common susceptibility genes also are associated with increased risk for developing breast cancer, but until recently have often gone undetected. With the advent of next generation sequencing (NGS), many families with suspected hereditary risk are ...

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