Risk of Breast cancer mutation underestimated in Asian Women

Oncologist Allison Kurian, MD, and her colleagues at the Stanford University School of Medicine were perplexed. Computer models designed to identify women who might have dangerous genetic mutations that increase their risk of breast and ovarian cancer worked well for white women. But they seemed to be less reliable for another ethnic group.

“We’ve been repeatedly surprised when Asian women who the models predicted would probably not have the mutations do in fact have them,” said Kurian. She recently showed that in a head-to-head comparison between whites and Asians, two of the most commonly used models failed in predicting the presence of mutations in almost half of the Asian women studied.

“Doctors and patients should have a higher level of suspicion when using these prediction models in Asian women, because they under-predicted the true number of clinically important mutations,” said Kurian. “We may have to consider more subtle patterns of family cancer history when considering genetic testing in this ethnic group.” Continue reading


Neuroblastoma research

I’ve had quite a few people looking here for the most recent neuroblastoma research.  Here’s an excerpt from Yahoo news and the link to the article.

Researchers have found a gene that causes most inherited forms of neuroblastoma, a rare and deadly form of childhood cancer, and say the discovery points to new treatments.


Christina Applegate news

From ABC news at www.abcnews.go.com

A month after being diagnosed with breast cancer, actress Christina Applegate, 36, is “100 percent” cancer-free, she told “Good Morning America’s” Robin Roberts in an exclusive interview

“I’m clear. Absolutely 100 percent clear and clean,” the star of ABC TV’s “Samantha Who?” said. “It did not spread — they got everything out, so I’m definitely not going to die from breast cancer.”

But the price she paid for that peace of mind was high. Continue reading

Genetic profiling for breast cancer

Study author Dr Paul Pharoah, from the University of Cambridge, said: “We are a few years away from a new and powerful range of genetic tests for breast cancer. We believe genetic testing has the potential to enable doctors to identify a woman at an increased risk of breast cancer who would benefit from mammography at an early age or woman who may benefit from regular MRI scanning as well. This approach would also identify a 55 year old woman with a low chance of breast cancer who possibly wouldn’t need such regular checks.”

more: http://www.medicalnewstoday.com/articles/112895.php

Breast cancer, genetics and books

People have asked me if I’ve been tested since I have a little girl. I have not. I am sure that at some point I will but I feel like I’d like to let my daughter go through puberty before she has to think about what the results would mean to her. I’ve attached a link below to the first chapter of a new book called Blood Matters. I’ve not yet read the book but it is being well reviewed and I’m sure I’ll read it in time. Thought you might be interested.



I worked with a two year old girl with neuroblastoma a few years ago. Fortunately for her and her family she was treated successfully and has gone on to have a happy childhood. Neuroblastoma is a terrible and frequently fatal childhood cancer. The good news is that researchers have found the genetic location that can bring this out in kids. It’s a long way out but research like this is always something to celebrate.


New research

New Genes Linked To Breast Cancer

United Press International

April 28, 2008

REYKJAVIK, Iceland — Scientists in Iceland said they have found a fourth set of genetic variants linked to an increased risk of estrogen receptor-positive breast cancer.

The findings, published in the journal Nature genetics, are being used to develop a DNA test to identify women who should be closely screened at an early age for the disease, the biopharmaceutical company deCode Genetics said Sunday in a release.

The test is expected to be released later this year, the company’s report said.

Researchers reported the discovery of two common single-letter variants on chromosome 5 of the human genome that are associated with risk of estrogen receptor-positive breast cancer. They said more than 60 percent of the general population carries at least one copy of the risk variant rs4415084. Women who have inherited the variant from both parents are at approximately 50 percent greater risk of developing ER+ breast cancer than women who have not inherited the variant, the report said.

The second variant occurs only in tandem with the first, adding slight risk of the disease. The variants are estimated to account for about 11 percent of breast cancers overall.