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Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers

Overview of attention for article published in Pathology, February 2012
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37 Mendeley
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Title
Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers
Published in
Pathology, February 2012
DOI 10.1097/pat.0b013e32834e8e5b
Pubmed ID
Authors

J.L. Hopper, M.A. Jenkins, J.G. Dowty, G.S. Dite, C. Apicella, L. Keogh, A.K. Win, J.P. Young, D. Buchanan, M.D. Walsh, C. Rosty, L. Baglietto, G. Severi, K.A. Phillips, E.M. Wong, A. Dobrovic, P. Waring, I. Winship, S.J. Ramus, G.G. Giles, M.C. Southey

Abstract

Genes have been identified for which germline mutations are associated with high lifetime risks of breast, colorectal and other cancers. Identification of mutation carriers through genetic testing is important as it could help lower cancer incidence and mortality. The translation of genetic information into better health outcomes is expensive because of the costs of genetic counselling as well as laboratory testing. Approaches to triage for mutation screening of known genes which rely on cancer family history are not necessarily sensitive and specific or the most cost-effective. Recent population-based research has shown that the cancers and precancerous lesions arising in mutation carriers have specific molecular and morphological characteristics. People with colorectal cancer, especially those diagnosed at a young age, whose tumours exhibit microsatellite instability and some specific pathology and immunohistochemically-defined features are more likely to carry a germline mutation in one of four mismatch repair genes. Some morphological and immunohistochemically-defined features are associated with breast cancers arising in women who carry BRCA1 or BRCA2 germline mutations, especially if at a young age. Screening paradigms based on molecular and morphological features that predict mutation status, especially if focused on early-onset disease, have the potential to identify mutation carriers with greater sensitivity and specificity, and in a more cost-effective way, than those based on family history alone. Genetic testing results could help inform treatment if those affected are tested soon after diagnosis using pathology-led selection strategies to identify cases most likely to carry germline mutations. We propose how this new approach could be undertaken by having genetic testing and counselling prioritised to those with the greatest probability of carrying a germline mutation in these known cancer predisposition genes.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 37 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 6 16%
Student > Bachelor 5 14%
Researcher 4 11%
Student > Ph. D. Student 4 11%
Student > Master 2 5%
Other 7 19%
Unknown 9 24%
Readers by discipline Count As %
Medicine and Dentistry 17 46%
Social Sciences 3 8%
Nursing and Health Professions 2 5%
Agricultural and Biological Sciences 1 3%
Sports and Recreations 1 3%
Other 3 8%
Unknown 10 27%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 April 2012.
All research outputs
#16,048,009
of 25,374,647 outputs
Outputs from Pathology
#689
of 1,528 outputs
Outputs of similar age
#163,299
of 253,532 outputs
Outputs of similar age from Pathology
#7
of 41 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,528 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 51% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 253,532 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.