نتایج جستجو برای: brca genes

تعداد نتایج: 428134  

Journal: :Journal of clinical pathology 1999
R P Zweemer P A Shaw R M Verheijen A Ryan A Berchuck B A Ponder H Risch J R McLaughlin S A Narod F H Menko P Kenemans I J Jacobs

BACKGROUND Mutations in the BRCA1 or BRCA2 genes are responsible for up to 95% of hereditary ovarian cancer cases. Both genes function as tumour suppressor genes, and development of a cancer is thought to require an accumulation of somatic genetic events in addition to the inherited germline predisposition. It is unknown whether these somatic events in BRCA associated ovarian cancer are similar...

Journal: :Journal of the National Cancer Institute 2013
Anna Azvolinsky

T he day after Mother's Day, actress Angelina Jolie wrote an op-ed in the New York Times revealing her decision to undergo a double mastectomy after learning that she carries a deleterious mutation in the BRCA1 gene. Jolie and women like her who have certain germ-line BRCA1 or BRCA2 mutations are at higher risk for breast and ovarian cancers. Jolie, whose mother died from ovarian cancer, said s...

2014
Sanne R. Martens-de Kemp Arjen Brink Ida H. van der Meulen Renée X. de Menezes Dirk J. Kuik Victor W. van Beusechem Boudewijn J.M. Braakhuis Ruud H. Brakenhoff

A genome-wide siRNA screen identiiies the FA/BRCA pathway as the strongest predictor of cisplatin response in head and neck cancer cells. ABSTRACT Objective: Patients with advanced head and neck squamous cell carcinoma (HNSCC) are generally treated with cisplatin-containing chemoradiation protocols. Although cisplatin is a low-priced and often used addition to radiation, it causes severe toxici...

2016
Po-Han Lin Wen-Hung Kuo Ai-Chu Huang Yen-Shen Lu Ching-Hung Lin Sung-Hsin Kuo Ming-Yang Wang Chun-Yu Liu Fiona Tsui-Fen Cheng Ming-Hsin Yeh Huei-Ying Li Yu-Hsuan Yang Yu-Hua Hsu Sheng-Chih Fan Long-Yuan Li Sung-Liang Yu King-Jen Chang Pei-Lung Chen Yen-Hsuan Ni Chiun-Sheng Huang

Since BRCA mutations are only responsible for 10-20% of cases of breast cancer in patients with early-onset or a family history and since next-generation sequencing technology allows the simultaneous sequencing of a large number of target genes, testing for multiple cancer-predisposing genes is now being considered, but its significance in clinical practice remains unclear. We then developed a ...

2004
Sei Hyun Ahn Ui Kang Hwang Beom Seok Kwak Ho Sung Yoon Bo Kyung Ku Hee Jun Kang Ji Su Kim Byung Kyun Ko Chang Dae Ko Kyung Sik Yoon Dae-Yeon Cho Jun Suk Kim Byung Ho Son

The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by an earlier age of onset than in Western countries, suggesting that it would be related with genetic background. We assayed germline mutations in the BRCA genes to evaluate their genetic pathology in Korean breast cancer patien...

Journal: :Cancer 2013
Susan M Domchek Komal Jhaveri Sujata Patil Jill E Stopfer Clifford Hudis Jacquelyn Powers Zsofia Stadler Laura Goldstein Noah Kauff Mustafa Khasraw Kenneth Offit Katherine L Nathanson Mark Robson

BACKGROUND This study sought to estimate the risk of breast cancer (BC) after a diagnosis of ovarian cancer (OC) associated with mutation of the BRCA1/2 (breast cancer, early onset) genes (BRCA-OC). METHODS The Memorial Sloan-Kettering Cancer Center and the University of Pennsylvania, clinical genetics databases were searched to identify women with BRCA-OC who participated in genetic testing ...

2014
M William Audeh

Inhibitors of the poly(adenosine triphosphate-ribose) polymerase (PARP)-1 enzyme induce synthetic lethality in cancers with ineffective DNA (DNA) repair or homologous repair deficiency, and have shown promising clinical activity in cancers deficient in DNA repair due to germ-line mutation in BRCA1 and BRCA2. The majority of breast cancers arising in carriers of BRCA1 germ-line mutations, as wel...

2016
Sudhir K. Unni Marisa B. Schauerhamer Rishi Deka Jerzy E. Tyczynski Ancilla W. Fernandes Vanessa Stevens Diana I. Brixner David D. Stenehjem

BACKGROUND Breast cancer associated (BRCA) genes are critical for DNA repair. Mutations in BRCA1 and BRCA2 (BRCAm) result in loss of these repair mechanisms and potential carcinogenesis. Germline BRCAm are common in ovarian carcinomas, particularly in platinum-sensitive disease. The increased prevalence of BRCAm in platinum-sensitive disease is likely due to enhanced responsiveness to platinum ...

2016
Cindy Badoer Céline Garrec Dirk Goossens Gillian Ellison John Mills Mélina Dzial Hakim El Housni Sarah Berwouts Paola Concolino Virginie Guibert-Le Guevellou Capucine Delnatte Jurgen Del Favero Ettore Capoluongo Stéphane Bézieau

Next-generation sequencing (NGS) has enabled new approaches for detection of mutations in the BRCA1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC). The search for germline mutations in the BRCA1 and BRCA2 genes is of importance with respect to oncogenetic and surgical (bilateral mastectomy, ovariectomy) counselling. Testing tumor material for BRCA mutations is of in...

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