Tuesday, March 13, 2007
Saturday, March 10, 2007
2007 A new varian database for mismatch repair genes associated with Lynch Syndrome: Memorial University of Newfoundland - Faculty of Medicine
Memorial University of Newfoundland - Faculty of Medicine
Hum Mutat. 2007 Mar 8
A new variant database for mismatch repair genes associated with Lynch syndrome.
* Woods MO,
* Williams P,
* Careen A,
* Edwards L,
* Bartlett S,
* McLaughlin JR,
* Younghusband HB.
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Mutations in some mismatch repair (MMR) genes are associated with Lynch syndrome (LS; also called hereditary nonpolyposis colorectal cancer [HNPCC]), an autosomal dominant cancer susceptibility syndrome. Colorectal cancer (CRC) is the most frequent cancer observed in LS. However, tumors occur at a variety of extracolonic sites and individuals may have multiple primary cancers. LS is the most common hereditary form of CRC, accounting for approximately 1% of all CRC. Since the first account of mutations in MSH2 causing this cancer susceptibility syndrome in 1993, mutations in three additional MMR genes, MLH1, MSH6, and PMS2, have been shown to cause LS. More than 1,500 different variants have been identified in these four genes and approximately 80% of the alterations have been identified in MLH1 and MSH2. There have been a few previous attempts to systematically record MMR variants associated with LS patients; however, they were not complete nor were they continuously updated. Thus, it was our goal to generate and maintain a comprehensive catalogue of MMR variants from genes known to be mutated in LS (http://www.med.mun.ca/MMRvariants; last accessed 8 February 2007). Providing such a resource should aid investigators in understanding the significance of the variants. Hum Mutat 0, 1-5, 2007. (c) 2007 Wiley-Liss, Inc.
Thursday, March 01, 2007
Thursday, February 22, 2007
brought to you by Ovarian Cancer blogger Khrissy Lupinacci: AUDIO from Medialink and Amgen: Patrick Dempsey Helping Raise Cancer Support Awareness
Ovarian Cancer News~ Ovarian Cancer Blog: AUDIO from Medialink and Amgen: Patrick Dempsey Helping Raise Cancer Support Awareness
Wednesday, February 21, 2007
NO RESPONSE BY DECISION-MAKERS - sad! Ovarian Advocate - Caelyx for British Columbia Ovarian Cancer Women - funding vs life
FYI - Re: http://www.ovarianadvocate.ca/
February 17th, 2007
117 Glen Hill Drive
Whitby, Ontario, Canada
Re: Funding Caelyx for Treatment of Recurrent Ovarian Cancer in British
I am writing to appeal to you to ensure that Caelyx is funded as a
treatment for recurrent ovarian cancer, or as deemed necessary, through
patient/physician decision-making. I do this because I have compassion,
understanding and intimate knowledge of the issues which ovarian cancer
women, their families and their friends face. From the initial
pre-surgery consultations to the last breath our ovarian cancer women
take. Research for decades is proof positive that ovarian cancer is the
most lethal of all gynecologic cancers. And yet, how far have we
actually progressed? 'Lethal' today is still the word used to describe
ovarian cancer. And yet, with our lack of decision-making, we actually
in fact consider our ovarian cancer women to be dispensable. They
deserve every chance and in light of extensive research, which you have
already received, the underlying issue of lack of actual access is not
comprehensible to me. I don't believe that I need to educate you on the
evidence-based research which provides sufficient criteria for simply
funding this chemotherapy for ovarian cancer women - today.
Further, it is irresponsible to confuse the economies of providing
Caelyx to ovarian cancer women in need. Confusion - because it is with
the hopes of remission or extension of life which no economies can ever
truly value in concrete terms. Further, recent reports indicate that
B.C.'s coffers are flush with funds. It therefore is a matter of
morality and quite simply the ability of the decision-makers to actually
make this decision.
Let us not continue to make mistakes of the past. The disparities in
access to either life-saving or life-extending therapies across
Provinces are well known. As a matter of fact, in the late 1990's,
Canadian ovarian cancer women experienced the very same issue between
Quebec and Ontario. Taxol was accessible to ovarian cancer women in
Quebec, and not in Ontario. It seems we have not yet learned our lessons
and are repeating the same mistakes but at the sacrifice of the valuable
women in our lives. The obvious lesson is that ovarian cancer does not
care where you live, but your survival does. How sad, in fact, that
while Health Care Ministers, Provincially and at the Federal level
discuss these issues, we simply are unable to recognize the deaths - the
actual realities while we wait for decisions. This is not acceptable and
our ovarian cancer women cannot wait. More importantly, the system which
you represent, has failed these women. It is a moral issue and only a
moral issue which stands in the way of ovarian cancer women in British
Columbia having access to this particularly effective chemotherapy.
Since my ovarian cancer diagnosis in 1999, I have been in the very
fortunate situation of surviving. But this survival comes at a price. It
is and has been typically a short term friendship, but one of value,
which words defy. It is and has been their absolute strength and will to
live and, yes, to suffer in silence, that alone deserves our respect by
doing the 'right thing'. You have the ability to give my ovarian cancer
women friends in British Columbia the will and the ability to improve
their life. This is a 'gift' through really a few strokes of the pen.
You can fund Caelyx for our ovarian cancer women in British Columbia. We
cannot wait, we should not have to wait.
Tuesday, February 20, 2007
Toward a Consensus in Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) -- Lynch et al. 99 (4): 261 -- JNCI Journal of
Toward a Consensus in Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) -- Lynch et al. 99 (4): 261 -- JNCI Journal of the National Cancer Institute
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics -- Lagerstedt Robinson et al. 99 (4): 291 -- JNCI Journal of the National Cance
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics -- Lagerstedt Robinson et al. 99 (4): 291 -- JNCI Journal of the National Cancer Institute
Saturday, February 17, 2007
Ovarian Cancer Advocate
"This webpage has been established by a group of women diagnosed with ovarian cancer in British Columbia. "