vendredi 31 mai 2013

Press Review (June 1, 2013) – Revue de presse (1 juin 2013)

First-in-class cancer drug approved to fight melanoma
The US Food and Drug Administration (FDA) has approved the first cancer drug to inhibit a protein — called MEK — that acts in a pathway that fuels tumour growth. The drug, called Mekinist (trametinib), was approved on 29 May for use in advanced melanomas with specific mutations. Other MEK-targeting drugs are being studied in a wide range of tumours, including lung and thyroid cancers.
By Heidi Ledford. In (blog)             

New Possibilities for Prostate Cancer Treatment Revealed
Researchers have identified a sub-group of cells that could contribute to prostate cancer recurrence, opening up new ways to treat the disease, which claims more than 3000 lives a year in Australia.
In Science Daily                                                

Barbara Brenner, breast cancer awareness advocate, dies at 61
Barbara Brenner, who directed Breast Cancer Action, a San Francisco-based breast cancer awareness group, for 15 years, died May 10 at her home in San Francisco. She was 61. Although she “beat the breast cancer odds,” as she once said, Ms. Brenner resigned her post in 2010 because of amyotrophic lateral sclerosis, a degenerative nerve disorder known as ALS.
By Valerie J. Nelson. In Washington Post

Immunotherapy's cancer remit widens
Combination therapies hold great promise, but at what cost?
By Heidi Ledford. In (blog)             

Cancer de la prostate : le Jevtana bientôt remboursé
Marisol Touraine, la ministre de la santé, a annoncé, vendredi 31 mai, le remboursement en France du Jevtana, un traitement coûteux du groupe Sanofi contre le cancer de la prostate. Interpellée par l'Association nationale des malades du cancer de la prostate (Anamacap), Mme Touraine a indiqué sur France Info que le médicament serait pris en charge par l'assurance-maladie.
Dans Le Monde

La FDA donne son feu vert à 2 nouveaux traitements contre le mélanome
Deux nouvelles thérapies ciblées du mélanome métastatique inopérable ainsi qu'un test diagnostic pour identifier le bon traitement ont reçu une autorisation de mise sur le marché (AMM) de la Food and Drug Administration (FDA). Les nouveaux agents, le dabrafenib (Tafinalar®) et le trametinib (Mekinist®), ont été développés par GlaxoSmithKline. Tous deux sont des traitements oraux mais ont des mécanismes d'action légèrement différents.
Par Zosia Chustecka, Aude Lecrubier. Dans Medscape

jeudi 30 mai 2013

Focus: Integrated genomic characterization of endometrial carcinoma

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and 25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

Source: Integrated genomic characterization of endometrial carcinoma. Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA. Collaborators (313). Nature. 2013 May 2;497(7447):67-73.
Free paper available at:

lundi 27 mai 2013

Focus: A physical sciences network characterization of non-tumorigenic and metastatic cells

To investigate the transition from non-cancerous to metastatic from a physical sciences perspective, the Physical Sciences-Oncology Centers (PS-OC) Network performed molecular and biophysical comparative studies of the non-tumorigenic MCF-10A and metastatic MDA-MB-231 breast epithelial cell lines, commonly used as models of cancer metastasis. Experiments were performed in 20 laboratories from 12 PS-OCs. Each laboratory was supplied with identical aliquots and common reagents and culture protocols. Analyses of these measurements revealed dramatic differences in their mechanics, migration, adhesion, oxygen response, and proteomic profiles. Model-based multi-omics approaches identified key differences between these cells' regulatory networks involved in morphology and survival. These results provide a multifaceted description of cellular parameters of two widely used cell lines and demonstrate the value of the PS-OC Network approach for integration of diverse experimental observations to elucidate the phenotypes associated with cancer metastasis.

Source: A physical sciences network characterization of non-tumorigenic and metastatic cells. Physical Sciences - Oncology Centers Network, Agus DB, Alexander JF, Arap W, Ashili S, Aslan JE, Austin RH, Backman V, Bethel KJ, Bonneau R, Chen WC, Chen-Tanyolac C, Choi NC, Curley SA, Dallas M, Damania D, Davies PC, Decuzzi P, Dickinson L, Estevez-Salmeron L, Estrella V, Ferrari M, Fischbach C, Foo J, Fraley SI, Frantz C, Fuhrmann A, Gascard P, Gatenby RA, Geng Y, Gerecht S, Gillies RJ, Godin B, Grady WM, Greenfield A, Hemphill C, Hempstead BL, Hielscher A, Hillis WD, Holland EC, Ibrahim-Hashim A, Jacks T, Johnson RH, Joo A, Katz JE, Kelbauskas L, Kesselman C, King MR, Konstantopoulos K, Kraning-Rush CM, Kuhn P, Kung K, Kwee B, Lakins JN, Lambert G, Liao D, Licht JD, Liphardt JT, Liu L, Lloyd MC, Lyubimova A, Mallick P, Marko J, McCarty OJ, Meldrum DR, Michor F, Mumenthaler SM, Nandakumar V, O'Halloran TV, Oh S, Pasqualini R, Paszek MJ, Philips KG, Poultney CS, Rana K, Reinhart-King CA, Ros R, Semenza GL, Senechal P, Shuler ML, Srinivasan S, Staunton JR, Stypula Y, Subramanian H, Tlsty TD, Tormoen GW, Tseng Y, van Oudenaarden A, Verbridge SS, Wan JC, Weaver VM, Widom J, Will C, Wirtz D, Wojtkowiak J, Wu PH. Sci Rep. 2013 Apr 25;3:1449.
Free paper available at:

vendredi 24 mai 2013

Press Review (May 25, 2013) – Revue de presse (25 mai 2013)

Older Men Should Pass on Getting Prostate Cancer Treatment
The advice to detect and treat cancers at the first opportunity may not apply to older men with prostate tumors, according to the latest study
By Alexandra Sifferlin. In TIME

The Way We Think about Cancer Must Evolve
Right now, as you read these words, your life is in danger. Somewhere within the vast self-contained micro-universe known as you, in one and possibly more of your trillions of cells, something is going wrong. A vital protein, perhaps, is being altered or destroyed as one cell divides to create another. The mutated cell, an incorrect version of its former self, will continue to multiply, compounding and extending its grotesque influence as an intruder and usurper, bent on its own self- preservation at your expense. It has become cancer.
By Mark Wolverton. In Wired                             

American Cancer Society Celebrates 100 Years of Progress
One million cancer deaths avoided since 1990s, group says.
In U.S. News & World Report

Cancer: Drug for an 'undruggable' protein
Scientists have long aimed to develop drugs against the cancer-associated protein KRAS, but without success. An approach that targets the oncoprotein's cellular localization reignites lost enthusiasm.
By Nicole M. Baker & Channing J. Der. In Nature   

Promising New Approach to Treatment of Lung Cancer
Researchers have developed a new drug delivery system that allows inhalation of chemotherapeutic drugs to help treat lung cancer, and in laboratory and animal tests it appears to reduce the systemic damage done to other organs while significantly improving the treatment of lung tumors.
In Science Daily                                                

Cancer : optimisme à géométrie variable
Le regard sur le cancer profondément évolué ces dernières décennies à la faveur des progrès de la médecine. Désormais, ce n’est plus seulement la fatalité et le pessimisme qui dominent lorsqu’on évoque ces pathologies. L’enquête d’opinion PACE (Patient Acces and Cancer Care Excellence) menée sous l’égide des laboratoires Lilly dans six pays (Allemagne, Italie, Royaume-Uni, Japon, Etats-Unis et France) auprès, dans chaque état, d’une centaine de patients, d'une centaine de professionnels de santé et de cinq cent personnes dans la population générale, confirme cette évolution.
Par Léa Crébat. Dans JIM

Métastases osseuses du cancer de la prostate : la FDA donne son accord à Xofigo
L'agent, le radium-223 dichloride (connu sous le nom d'alpharadin), a reçu une autorisation de mise sur le marché (AMM) de la Food and Drug Administration (FDA) le 15 mai. Il sera commercialisé par les laboratoires Bayer sous le nom de Xofigo® dans le traitement du cancer de la prostate avec métastase(s) osseuse(s) uniquement, chez les hommes ayant préalablement bénéficié d'une autre thérapie visant à influer sur le taux de testostérone
Par Zosia Chustecka, Aude Lecrubier. Dans Medscape

vendredi 17 mai 2013

Press Review (May 18, 2013) – Revue de presse (18 mai 2013)

Washington: Cancer Patients More Prone to Bankruptcy
A study of cancer patients in Washington State has found they were twice as likely to file for bankruptcy as people without cancer. The study, led by researchers from the Fred Hutchinson Cancer Research Center in Seattle, linked bankruptcy court records and information from the regional cancer registry on about 200,000 cancer patients, and compared them with a similar group of people from the same area who did not have cancer. Young people with cancer experienced the highest bankruptcy rates, the study found, up to 10 times the rate of bankruptcy filings among older age groups.
By Sabrina Tavernise. In The New York Times

Seeking Calm on the Cancer Ward
When people choose to have their leukemia treated aggressively, it’s a big commitment, more so than for almost any other cancer.
With this therapy — three days of the drug daunorubicin, which comes in a reddish color so distinctive that one of my patients, a former chemist, used it in his professional life as a dye for plastics, and seven days of the drug cytarabine, which is infused continuously over 168 hours — we offer them the chance to be cured of a disease moving like wildfire with a stiff breeze behind it at the height of drought.
By Mikkael L. Sekkeres. In The New York Times (blog)      

Melanoma Treatment Harnesses Immune System to Combat Cancer Cells
A study of cancer patients in Washington State has found they were twice as likely to file for bankruptcy as people without cancer. The study, led by researchers from the Fred Hutchinson Cancer Research Center in Seattle, linked bankruptcy court records and information from the regional cancer registry on about 200,000 cancer patients, and compared them with a similar group of people from the same area who did not have cancer. Young people with cancer experienced the highest bankruptcy rates, the study found, up to 10 times the rate of bankruptcy filings among older age groups.
By Andrew Pollock. In The New York Times

Cancer patients condemn hospital care
Some go hungry, receive the wrong drugs or feel so uncared for they consider abandoning treatment.
By Denis Campbell. In The Guardian               

Cancer genetics in music and film
“Decoding Annie Parker,” which premiered in New York last month, is coming to Seattle June 6 and 8 through SIFF. “In this amazing true story, the lives of cancer-stricken Annie Parker and UW geneticist Mary-Claire King intertwine, leading to the world-changing discovery of the BRCA1 breast cancer gene.” Helen Hunt plays King, and Samantha Morton plays Parker, who now speaks around the world about her experiences.
By Carol M. Ostrom. In The Seattle Times       

Cancer du sein : le coup de pouce de Jolie au vendeur de tests génétiques
En annonçant sa mastectomie préventive, Angelina Jolie a, malgré elle, fait un cadeau à une société controversée outre-Atlantique : l’action de Myriad Genetics, le fabricant du test de dépistage, a grimpé de 4% sur une seule journée. Mais Myriad est poursuivie par des défenseurs des libertés civiles et des scientifiques pour avoir voulu breveter le vivant.
Par Sophie Caillat. Dans Rue89

Cancer du poumon : une prise de sang pour repérer les anomalies génétiques
Une équipe de chercheurs français a mis au point une technique qui permettrait, à l’aide d’une simple prise de sang, d'identifier les patients susceptibles de bénéficier d'un traitement ciblé contre le cancer du poumon
Par Emmanuel Perrin. Dans MaxiSciences

vendredi 10 mai 2013

Press Review (May 11, 2013) – Revue de presse (11 mai 2013)

Prices Cut for Cervical Cancer Vaccines in Poor Countries
The two companies that make vaccines against cervical cancer announced Thursday that they would cut their prices to the world’s poorest countries below $5 per dose, eventually making it possible for millions of girls to be protected against a major cancer killer.
By Donald G. McNeil Jr.. In The New York Times

Living With Cancer: Good News Soup
People with incurable cancer do sometimes receive good news, as I have. Why is it harder for me to share good news than bad news? During treatment, good news produces elating highs, but also anxious lows.
By Susan Gubar. In The New York Times (blog)    

Fun and Friends Help Ease the Pain of Breast Cancer
Breast cancer patients who say they have people with whom they have a good time, or have "positive social interactions" with, are better able to deal with pain and other physical symptoms, according to a new Kaiser Permanente study published today in Breast Cancer Research and Treatment.
In Science Daily (press release)                       

Research Reveals Cancer-Suppressing Protein 'Multitasks'
The understanding of how a powerful protein called p53 protects against cancer development has been upended by a discovery by Walter and Eliza Hall Institute researchers.
In Science Daily (press release)                       

Your immune system: On surveillance in the war against cancer
Predicting outcomes for cancer patients based on tumor-immune system interactions is an emerging clinical approach, and new research from Wake Forest Baptist Medical Center is advancing the field when it comes to the most deadly types of breast cancer
In Medical XPress

Vivre une grossesse jeune réduit le risque de cancer du sein
Une grossesse vécue jeune protège les femmes contre le cancer du sein. Une étude montre que l’expression génétique des cellules mammaires est modifiée chez les jeunes mères souris. Ces résultats expliqueraient pourquoi elles sont mieux protégées et pourraient conduire au développement de traitements contre ce type de cancer.
Par Agnès Roux. Dans Futura Sciences

Des cancers différents mais des similarités génétiques
On le savait déjà, mais une nouvelle étude le confirme : il faut protéger sa peau du soleil. Les travaux, étalés sur 20 ans, montrent que l’apparition d’un cancer de la peau favorise le développement ultérieur d’autres cancers.
Dans Le Monde

jeudi 9 mai 2013

Focus : The Genomic HyperBrowser: an analysis web server for genome-scale data

The immense increase in availability of genomic scale datasets, such as those provided by the ENCODE and Roadmap Epigenomics projects, presents unprecedented opportunities for individual researchers to pose novel falsifiable biological questions. With this opportunity, however, researchers are faced with the challenge of how to best analyze and interpret their genome-scale datasets. A powerful way of representing genome-scale data is as feature-specific coordinates relative to reference genome assemblies, i.e. as genomic tracks. The Genomic HyperBrowser ( is an open-ended web server for the analysis of genomic track data. Through the provision of several highly customizable components for processing and statistical analysis of genomic tracks, the HyperBrowser opens for a range of genomic investigations, related to, e.g., gene regulation, disease association or epigenetic modifications of the genome.

Source: The Genomic HyperBrowser: an analysis web server for genome-scale data. Sandve GK, Gundersen S, Johansen M, Glad IK, Gunathasan K, Holden L, Holden M, Liestøl K, Nygård S, Nygaard V, Paulsen J, Rydbeck H, Trengereid K, Clancy T, Drabløs F, Ferkingstad E, Kalas M, Lien T, Rye MB, Frigessi A, Hovig E. Nucleic Acids Res. 2013 Apr 30.
Free paper available at:

mercredi 8 mai 2013

Focus: Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1

Pediatric low-grade gliomas (PLGGs) are among the most common solid tumors in children but, apart from BRAF kinase mutations or duplications in specific subclasses, few genetic driver events are known. Diffuse PLGGs comprise a set of uncommon subtypes that exhibit invasive growth and are therefore especially challenging clinically. We performed high-resolution copy-number analysis on 44 formalin-fixed, paraffin-embedded diffuse PLGGs to identify recurrent alterations. Diffuse PLGGs exhibited fewer such alterations than adult low-grade gliomas, but we identified several significantly recurrent events. The most significant event, 8q13.1 gain, was observed in 28% of diffuse astrocytoma grade IIs and resulted in partial duplication of the transcription factor MYBL1 with truncation of its C-terminal negative-regulatory domain. A similar recurrent deletion-truncation breakpoint was identified in two angiocentric gliomas in the related gene v-myb avian myeloblastosis viral oncogene homolog (MYB) on 6q23.3. Whole-genome sequencing of a MYBL1-rearranged diffuse astrocytoma grade II demonstrated MYBL1 tandem duplication and few other events. Truncated MYBL1 transcripts identified in this tumor induced anchorage-independent growth in 3T3 cells and tumor formation in nude mice. Truncated transcripts were also expressed in two additional tumors with MYBL1 partial duplication. Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas.

Source: Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. Ramkissoon LA, Horowitz PM, Craig JM, Ramkissoon SH, Rich BE, Schumacher SE, McKenna A, Lawrence MS, Bergthold G, Brastianos PK, Tabak B, Ducar MD, Van Hummelen P, Macconaill LE, Pouissant-Young T, Cho YJ, Taha H, Mahmoud M, Bowers DC, Margraf L, Tabori U, Hawkins C, Packer RJ, Hill DA, Pomeroy SL, Eberhart CG, Dunn IF, Goumnerova L, Getz G, Chan JA, Santagata S, Hahn WC, Stiles CD, Ligon AH, Kieran MW, Beroukhim R, Ligon KL. Proc Natl Acad Sci U S A. 2013 Apr 30.
Free paper available at:

mardi 7 mai 2013

Focus: Increased expression of pregnancy up-regulated non-ubiquitous calmodulin kinase is associated with poor prognosis in clear cell renal cell carcinoma

The aims of this study were to evaluate the clinical significance and potential prognostic value of pregnancy up-regulated non-ubiquitous calmodulin kinase (PNCK) in clear cell renal cell carcinoma (ccRCC) patients.
The expression of PNCK mRNA was determined in 24 paired samples of ccRCCs and adjacent normal tissues using real-time RT-PCR. The expression of PNCK was determined in 248 samples of ccRCCs and 92 paired samples of adjacent normal tissues by immunohistochemical analysis. Statistical analysis was performed to define the relationship between PNCK expression and the clinical features of ccRCC.
The mRNA level of PNCK was significantly higher in tumorous tissues than in the adjacent non-tumorous tissues (p<0.001). An immunohistochemical analysis of 92 paired tissue specimens showed that PNCK expression was higher in tumorous tissues than in the adjacent non-tumorous tissues (p<0.001). Moreover, there was a significant correlation between the PNCK expression and various clinicopathological parameters such as Fuhrman grade (p=0.011), tumor size (p<0.001), T stage (p<0.001) and N stage (p=0.015). Patients with higher PNCK expression had shorter overall survival time than those with lower PNCK expression (p<0.001). Multivariate analysis indicated that PNCK expression was an independent predictor for poor survival of ccRCC patients.
To our knowledge, this is the first study that determines the relationship between PNCK and prognosis in ccRCC. We found that increased PNCK expression is associated with poor prognosis in ccRCC. PNCK may represent a novel prognostic marker for ccRCC.

Source: Increased expression of pregnancy up-regulated non-ubiquitous calmodulin kinase is associated with poor prognosis in clear cell renal cell carcinoma. Wu S, Lv Z, Wang Y, Sun L, Jiang Z, Xu C, Zhao J, Sun X, Li X, Hu L, Tang A, Gui Y, Zhou F, Cai Z, Wang R ( PLoS One. 2013 Apr 25;8(4):e59936.
Free paper available at:

dimanche 5 mai 2013

Focus : A Genetic Screen Using the PiggyBac Transposon in Haploid Cells Identifies Parp1 as a Mediator of Olaparib Toxicity

Genetic perturbation screens have the potential to dissect a wide range of cellular phenotypes. Such screens have historically been difficult in diploid mammalian cells. The recent derivation of haploid embryonic stem cells provides an opportunity to cause loss of function mutants with a random mutagen in a mammalian cell with a normal genetic background. We describe an approach to genetic screens that exploits the highly active piggyBac transposon in haploid mammalian cells. As an example of haploid transposon (HTP) screening, we apply this approach to identifying determinants of cancer drug toxicity and resistance. In a screen for 6-thioguanine resistance we recovered components of the DNA mismatch repair pathway, a known requirement for toxicity. In a further screen for resistance to the clinical poly(ADP-ribose) polymerase (PARP) inhibitor olaparib we recovered multiple Parp1 mutants. Our results show that olaparib toxicity to normal cells is mediated predominantly via Parp1, and suggest that the clinical side effects of olaparib may be on target. The transposon mutant libraries are stable and can be readily reused to screen other drugs. The screening protocol described has several advantages over other methods such as RNA interference: it is rapid and low cost, and mutations can be easily reverted to establish causality.

Source: A Genetic Screen Using the PiggyBac Transposon in Haploid Cells Identifies Parp1 as a Mediator of Olaparib Toxicity. Pettitt SJ, Rehman FL, Bajrami I, Brough R, Wallberg F, Kozarewa I, Fenwick K, Assiotis I, Chen L, Campbell J, Lord CJ, Ashworth A ( PLoS One. 2013 Apr 25;8(4):e61520.

vendredi 3 mai 2013

Press Review (May 4, 2013) – Revue de presse (4 mai 2013)

Cancers Share Gene Patterns, Studies Affirm
Scientists have discovered that the most dangerous cancer of the uterine lining closely resembles the worst ovarian and breast cancers, providing the most telling evidence yet that cancer will increasingly be seen as a disease defined primarily by its genetic fingerprint rather than just by the organ where it originated.
By Gina Kolata. In The New York Times (blog)

Exorbitant Prices for Leukemia Drugs
Last year we were heartened when doctors at the Memorial Sloan-Kettering Cancer Center in New York refused to use an outrageously overpriced drug for treating advanced colorectal cancer because it was no better than a cheaper (but still costly) alternative. Neither did much to extend a patient’s life. Now the revolt against unjustifiably high cancer drug prices has been joined by more than 100 leukemia experts from more than 15 countries.
By the Editorial Board. In The New York Times (blog)        

Teenage Cancer One-Year Survival Rates 'Vary Significantly'
Healthcare workers must have better awareness of the signs and symptoms of cancer in teenagers and young adults, experts have said. Mike Stevens, professor of paediatric oncology at the University of Bristol, made his comments after figures show that one-year survival rates "vary significantly" among youngsters who get the disease.
In Huffington Post UK

Scientists Decode "Molecular Chatter" That Makes Cancer Cells Spread
For the first time, scientists in the US have decoded the "molecular chatter" that makes cancer cells more aggressive and more likely to travel and set up tumors in other parts of the body (metastasize). The discovery came about as a result of bringing together specialists in cancer development with specialists in wound healing.
In Medical News Today                                     

Experimental Drug Inhibits Growth in All Stages of Common Kidney Cancer
Researchers at Mayo Clinic’s campus in Florida have discovered a protein that is overly active in every human sample of kidney cancer they examined. They also found that an experimental drug designed to block the protein’s activity significantly reduced tumor growth in animals when used alone. Combining it with another drug already used to treat the cancer improved the effectiveness of both.
In Science Daily (press release)                       

Les implants mammaires pourraient retarder la détection du cancer du sein
La présence d'implants mammaires entraînerait un dépistage plus tardif du cancer du sein et pourrait avoir un impact sur la survie des femmes atteintes de ce cancer, selon une étude publiée mercredi par le British Medical Journal (BMJ).
Dans Le Monde

Le cancer de la peau lié à l'apparition d'autres cancers
On le savait déjà, mais une nouvelle étude le confirme : il faut protéger sa peau du soleil. Les travaux, étalés sur 20 ans, montrent que l’apparition d’un cancer de la peau favorise le développement ultérieur d’autres cancers.
Par Agnès Roux. Dans Futura Sciences

mercredi 1 mai 2013


Author: Marc Lacroix (InTextoResearch, Baelen, Wallonia, Belgium)
Nova Sciences Publishers
ISBN: 978-1-62257-817-7    
(also available as e-book - ISBN: 978-1-62618-780-1)

Book Description:

Cancer is characterized by uncontrolled cell division and the potential of the cells to invade surrounding tissues and spread around the body. Most of these changes in cellular behavior are the result of alterations in the function or levels of the proteins that control these processes. And these alterations are, in turn, usually caused by modifications at the DNA level. Indeed, cancer is now recognized as being essentially a disease caused by mutation, or dysregulated expression, of genes. Of the estimated 30,000 genes in the human genome, currently more than 250 are known to play an important role in the development of cancer, either sporadic or familial. In some cases, their effects result from gene fusion, due to translocation for instance, or from amplification of a chromosomal region. During the last years, attention has largely shifted from the identification of rare high-risk genetic mutations to a hunt for lower risk gene polymorphisms, many of which are likely to be common within the population. Another increasingly investigated field is epigenetics, which relates to abnormal and prolonged changes in the mechanisms that alter gene expression and activity, without involving changes in genetic sequence.

Table of Contents:

Chapter 1: A Detailed List of Major Cancer Genes
Chapter 2: Gene Fusions in Cancer
Chapter 3: Gene Amplification in Cancer
Chapter 4: Low Penetrance Sites in Cancer: Candidate Genes
Chapter 5: Familial Cancer Syndromes
Chapter 6: Epigenetics and Cancer

The Author:

Born in 1963, Marc Lacroix has been working on breast cancer in several academic institutions and at InTextoResearch, an agency devoted to scientific information on cancer. He authored four books: “Tumor Suppressor Genes in Breast Cancer” (2008), “Molecular Therapy of Breast Cancer: Classicism meets Modernity” (2009), “MicroRNAs in Breast Cancer” (2010) and “A Concise History of Breast Cancer” (2011 & 2013)


Chapter 1

ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)
AKT1 (RAC-alpha serine/threonine-protein kinase)
AKT2 (v-akt murine thymoma viral oncogene homolog 2)
ALK (Anaplastic lymphoma receptor tyrosine kinase)
APC (Adenomatous polyposis coli)
ARID1A (AT rich interactive domain 1A)
ARID1B (AT rich interactive domain 1B)
ARID2 (AT rich interactive domain 2)
ASXL1 (Additional sex combs like 1)
ATM (Ataxia telangiectasia mutated)
BAP1 (BRCA1 associated protein-1)
BLM (Bloom syndrome, RecQ helicase-like)
BMPR1A (Bone morphogenetic protein receptor, type IA)
BRAF (v-raf murine sarcoma viral oncogene homolog B1)
BRCA1 (Breast cancer 1, early onset)
BRCA2 (Breast cancer 2, early onset)
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
BUB1B (Budding uninhibited by benzimidazoles 1 homolog beta)
CASP8 (Caspase 8, apoptosis-related cysteine peptidase)
CBFB (Core-binding factor, beta subunit)
CBL (Cas-Br-M (murine) ecotropic retroviral transforming sequence)
CDH1 (Cadherin 1, type 1, E-cadherin)
CDK4 (Cyclin-dependent kinase 4)
CDKN1B (Cyclin-dependent kinase inhibitor 1B)
CDKN2A (Cyclin-dependent kinase inhibitor 2A)
CEBPA (CCAAT/enhancer binding protein (C/EBP), alpha)
CHEK2 (CHK2 checkpoint homolog)
CTNNB1 (Catenin (cadherin-associated protein), beta 1, 88kDa)
CYLD (Cylindromatosis)
DDB2 (also known as XPE) (Damage-specific DNA binding protein 2)
DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha)
EGFR (Epidermal growth factor receptor)
ERBB2 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog)
ERCC2 (also known as XPD) (Excision repair cross-complementing rodent repair deficiency, complementation group 2)
ERCC3 (also known as XPB) (Excision repair cross-complementing rodent repair deficiency, complementation group 3)
ERCC4 (also known as XPF) (Excision repair cross-complementing rodent repair deficiency, complementation group 4)
ERCC5 (also known as XPG) (Excision repair cross-complementing rodent repair deficiency, complementation group 5)

EXT1 (Exostosin-1)
EXT2 (Exostosin-2)
EZH2 (Enhancer of zeste homolog 2)
FAM123B (Family with sequence similarity 123B)
Fanconi Anemia pathway
FANCA (Fanconi anemia, complementation group A)
FANCB (Fanconi anemia, complementation group B)
FANCC (Fanconi anemia, complementation group C)
FANCD1 (also known as BRCA2) (Fanconi anemia, complementation group D1)
FANCD2 (Fanconi anemia, complementation group D2)
FANCE (Fanconi anemia, complementation group E)
FANCF (Fanconi anemia, complementation group F)
FANCG (Fanconi anemia, complementation group G)
FANCI (Fanconi anemia, complementation group I)
FANCJ (also known as BRIP1) (Fanconi anemia, complementation group J)
FANCL (Fanconi anemia, complementation group L)
FANCM (Fanconi anemia, complementation group M)
FBXW7 (F-box and WD repeat domain containing 7)
FGFR3 (Fibroblast growth factor receptor 3)
FH (Fumarate hydratase )
FLCN (Folliculin)
FLT3 (Fms-related tyrosine kinase 3)
FOXL2 (Forkhead box L2)
GATA1 (GATA binding protein 1)
GATA3 (GATA binding protein 3)
GNAQ (Guanine nucleotide binding protein (G protein), q polypeptide)
GNAS (GNAS complex locus)
HNF1A (HNF1 homeobox A)
HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog)
IDH1 (Isocitrate dehydrogenase 1)
IDH2 (Isocitrate dehydrogenase 2)
JAK2 (Janus kinase 2)
KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)
KLF6 (Kruppel-like factor 6)
KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog)
MAP2K4 (Mitogen-activated protein kinase kinase 4)
MAP3K1 (Mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase)
MAP3K13 (Mitogen-activated protein kinase kinase kinase 13)
MEN1 (Multiple endocrine neoplasia I)
MLH1 (MutL homolog 1, colon cancer, nonpolyposis type 2)
MSH2 (MutS homolog 2, colon cancer, nonpolyposis type 1)
MSH6 (MutS homolog 6)
MPL (Myeloproliferative leukemia virus oncogene)
MUTYH (MutY homolog)
MYC (v-myc myelocytomatosis viral oncogene homolog)
NCOR1 (Nuclear receptor corepressor 1)
NF1 (Neurofibromin 1) & NF2 (Neurofibromin 2)
NOTCH1 (Notch 1)
NPM1 (Nucleophosmin 1)
NRAS (Neuroblastoma RAS viral (v-ras) oncogene homolog)
NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3)
PALB2 (also known as FANCN) (Fanconi anemia, complementation group N)
PBRM1 (Polybromo 1)
PDGFRA (Platelet-derived growth factor receptor, alpha polypeptide)
PHOX2B (Paired-like homeobox 2b)
PIK3CA (Phosphoinositide-3-kinase, catalytic, alpha polypeptide)
PMS1 (PMS1 postmeiotic segregation increased 1)
PMS2 (PMS2 postmeiotic segregation increased 2)
POLH (also known as XPV) (Polymerase (DNA directed), eta)
Polycomb group (PcG) proteins
PPP2R1A (protein phosphatase 2, regulatory subunit A, α)
PRKAR1A (Protein kinase, cAMP-dependent, regulatory, type I, α)
PTCH1 (Patched 1)
PTEN (Phosphatase and tensin homolog)
PTPN11 (Protein tyrosine phosphatase, non-receptor type 11)
RAD51C (RAD51 homolog C)
RAD51C (also known as FANCO) (Fanconi anemia, complementation group O)
RB1 (Retinoblastoma 1)
RECQL4 (RecQ protein-like 4)
RET (Ret proto-oncogene)
RUNX1 (Runt-related transcription factor 1)
SDHA (Succinate dehydrogenase complex, subunit A, flavoprotein variant)
SDHAF2 (Succinate dehydrogenase complex assembly factor 2)
SDHB (Succinate dehydrogenase complex, subunit B, iron sulfur)
SDHC (Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa)
SDHD (Succinate dehydrogenase complex, subunit D, integral membrane protein)
SETD2 (SET domain containing 2)
SF3B1  (Splicing factor 3b, subunit 1, 155kDa)
SMAD4 (SMAD family member 4)
SMO (Smoothened homolog)
SOCS1 (Suppressor of cytokine signaling 1)
STK11 (Serine/threonine kinase 11)
SUFU (Suppressor of fused homolog)
SWI/SNF complex components
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) are the most frequently mutated.
TBX3 (T-box 3)
TET2 (Tet (ten-eleven-translocation) oncogene family member 2)
TMEM127 (Transmembrane protein 127)
TNFAIP3 (Tumor necrosis factor, alpha-induced protein 3)
TP53 (Tumor protein p53)
TSC1 (Tuberous sclerosis 1) & TSC2 (Tuberous sclerosis 2)
TSHR (Thyroid stimulating hormone receptor)
XPA (Xeroderma pigmentosum, complementation group A)
XPC (Xeroderma pigmentosum, complementation group C)
WRN (Werner syndrome, RecQ helicase-like)
WT1 (Wilms tumor 1)

Chapter 2

Balanced translocations and gene fusions
Deletions and gene fusions
Dicentric aberrations and gene fusions
Insertions and gene fusions
Inversions and gene fusions
Non-reciprocal translocations and gene fusions
Ring chromosome and gene fusions

Chapter 3

AKT2 (V-akt murine thymoma viral oncogene homolog 2)
AR (Androgen receptor)
ARPC1A (Actin related protein 2/3 complex, subunit 1A, 41kDa)
AURKA (Aurora kinase A)
BCL2L2 (BCL2-like 2)
CACNA1E (Calcium channel, voltage-dependent, R type, alpha 1E subunit)
CCND1 (Cyclin D1)
CCNE1 (Cyclin E1)
CDK4 (Cyclin-dependent kinase 4)
CDK6 (Cyclin-dependent kinase 6)
CHD1L (Chromodomain helicase DNA binding protein 1-like)
CKS1B (CDC28 protein kinase regulatory subunit 1B)
DCUN1D1 (DCN1, defective in cullin neddylation 1, domain containing 1)
DYRK2 (Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2)
E2F3  (E2F transcription factor 3)
EGFR (Epidermal growth factor receptor)
EIF5A2 (Eukaryotic translation initiation factor 5A2)
ERBB2 (V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog)
FADD (Fas (TNFRSF6)-associated via death domain)
FGFR1 (Fibroblast growth factor receptor 1)
GATA6 (GATA binding protein 6)
GPC5 (Glypican 5)
GRB7 (Growth factor receptor-bound protein 7)
JUN (Jun proto-oncogene)
KIT (V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)
MAP3K5 (Mitogen-activated protein kinase kinase kinase 5)
MDM2 (Mdm2, p53 E3 ubiquitin protein ligase homolog)
MDM4 (Mdm4 p53 binding protein homolog)
MED29 (Mediator complex subunit 29)
MET (Met proto-oncogene)
MITF (Microphthalmia-associated transcription factor)
MTDH (Metadherin)
MYC (V-myc myelocytomatosis viral oncogene homolog)
MYCL1 (V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived)
MYCN (V-myc myelocytomatosis viral related oncogene, neuroblastoma derived)
NCOA3 (Nuclear receptor coactivator 3)
NKX2-1 (NK2 homeobox 1)
NKX2-8 (NK2 homeobox 8)
PAK1 (P21 protein (Cdc42/Rac)-activated kinase 1)
PAX9 (Paired box 9)
PIK3CA (Phosphoinositide-3-kinase alpha polypeptide)
PPM1D (Protein phosphatase, Mg2+/Mn2+ dependent, 1D)
PRKCI            (Protein kinase C, iota)
RAB25 (RAB25, member RAS oncogene family)
REL (V-rel reticuloendotheliosis viral oncogene homolog)
RPS6KB1 (Ribosomal protein S6 kinase, 70kDa, polypeptide 1)
SKP2 (S-phase kinase-associated protein 2, E3 ubiquitin protein ligase)
SMURF1 (SMAD specific E3 ubiquitin protein ligase 1)
STARD3 (StAR-related lipid transfer (START) domain containing 3)
TSPAN31 (Tetraspanin 31)
WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1-like 1)
YWHAB (Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide)           
YWHAQ (Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide)
YWHAZ (Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide)
ZNF217 (Zinc finger protein 217)
ZNF639 (Zinc finger protein 639)

Chapter 4

GWAS in bladder cancer
GWAS in breast cancer (BC)
GWAS in colorectal cancer (CRC)
GWAS in lung cancer (LC)
GWAS in cancer types other than bladder, breast, colorectal, esophageal, lung, prostate, and upper aerodigestive
GWAS in prostate cancer (PC)
GWAS in upper aerodigestive and esophageal cancers

Chapter 5

Ataxia Telangiectasia
Basal Cell Nevus Syndrome
Beckwith–Wiedemann Syndrome
Birt–Hogg–Dubé Syndrome
Bloom Syndrome
Carney Complex, Types I and II
Cowden Syndrome
Dyskeratosis Congenita
Familial Adenomatous Polyposis
Familial platelet disorder with predisposition to acute myelogenous leukemia
Fanconi Anemia
Hereditary Breast/Ovarian Cancer
Hereditary Diffuse Gastric Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Multiple Exostosis
Hereditary Nonpolyposis Colon Cancer
Hereditary Papillary Renal Cell Carcinoma
Hereditary paraganglioma-pheochromocytoma syndrome
Li–Fraumeni Syndrome, including Li-Fraumeni-Like Syndrome
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2A, 2B
MYH-Associated Polyposis
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Nijmegen Breakage Syndrome
Peutz–Jeghers Syndrome
Polyposis, Familial Juvenile
Retinoblastoma, Hereditary
Rhabdoid Tumor Predisposition Syndrome
Rothmund–Thomson Syndrome
Shwachman-Bodian-Diamond Syndrome
Simpson–Golabi–Behmel Syndrome
Tuberous Sclerosis Complex
Variegated Aneuploidy, Mosaic
Von Hippel–Lindau Syndrome
Werner Syndrome
Wilms Tumor, Familial
Xeroderma Pigmentosum

Chapter 6

Cancer mutations in histone genes
Chromatin remodelers
DNA Hydroxy-Methylation and Its Oxidation Derivatives
DNA Methylation:
Histone acetylation
Histone acetylation readers
Histone demethylation
Histone desacetylation
Histone methylation
Histone methylation readers
Histone modifications
Histone phosphorylation
Noncoding RNAs