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Showing posts from June, 2024

Why is ovarian cancer different?

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Unlocking ovarian cancer heterogeneity: advancing immunotherapy through single-cell transcriptomics https://tinyurl.com/2vpf36vp Gradually the reasons why ovarian cancer is such a difficult challenge to treat, with high mortality, are becoming clear.  This article uses  new technology ;  single cell RNA sequencing to  show  the variation in   the immune features of the individual cells ,   which make   up ovarian cancer. It is well known that ovarian cancer has great  capacity  to resist immunological challenge .  T umour  micro-environments exist with protectiv e features involving white cells and suppressor cells which enable cancer survival and  progression. S ingle cell sequencing   reve als  targets for new treatment such as check-point  blockade ,  ( w hich is important with mis-match DNA repair ) .   Also,  the  new information   may  identify  those women who will h...

No longer number 1

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Disparities in ovarian and uterine cancer in relation to the development of novel therapeutics.  https://tinyurl.com/249mzrma Ovarian cancer has always been shown to be the gynaecological cancer  most likely to cause death. With the onset of targeted therapy, this no longer appears to be the case. As  this article shows it is now more likely that women in the US will die of uterine cancer. The  number  of deaths  from ovarian and uterine cancer were compared for the periods  2001-2019 ,  and 2015-2024, with estimated mortality for the latter pe riod.  During this  time ovarian  cancer deaths decreased by  1.1% per annum ,  and uterine cancer deaths increased by 3%. Total numbers of deaths per annum for ovarian cancer at about 12 750 ,  are less in 2024 than for uterine ca ncer ,  being   13250. This is a reversal of  previous  ratios of 1.4 to  1.  It is  speculated  that this c...

The Viking Gene

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Two founder variants account for 90% of pathogenic BRCA alleles in Orkney and Shetland https://tinyurl.com/54pbt2jh For most women ,  the chance of carrying the BRCA gene mutation is 1:400. In certain populations ,  notably the Ashkenaz i Jews, Scandinavians from Norway ,  and the Shetlanders this risk increase s  to 1 :40 ,  making breast ,  ovarian and other cancers ten times more likely. With ne x t generation gene sequencing ,  it is now possible to  identify  variants of the BRCA genes which  are  responsible for  this increased risk. Using  genealogy, the origins of the  mutatio ns  can  be traced   to  a founder  variant .  Founder effect is increased when  populations  are small ,  with in-breeding. In Norway this followed the ravages of the  bubonic plague, for the Ashkenazi the outside stimulus was the  destruction of Jerusalem. Recent research has ...

Too much of a good thing?

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Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention https://tinyurl.com/5hb76d25 Pre-natal testing has become normal for all pregnant women in first world countries. With the availability of  cheaper genetic testing, it may be possible to detect  potentially lethal genetic mutations for mothers as well as the infant. BRCA1/2 mutations are found in 1 in 400 women, these mutations in crease the risk of breast, ovarian and other cancers. Early intervention has proved effective for prevention of  cancer development for these women. This study looks at the theoretical cost versus the benefit of doing prenatal testing and  subsequent  risk reduction.  Retrospective  analysis of almost 1.5 million  women who had  genetic screening for obstetric care suggested that ,  if BRCA1/2 and other au tosomal dominant genetic mutations w e re included  in the screen ,  there would be signif...