MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
2010 · Hereditary Cancer in Clinical Practice · 44 citations
https://doi.org/10.1186/1897-4287-8-5
M
Mary McPhillips
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28
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768
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12
h-index
14
i10-index
Mary McPhillips is an academic researcher from New South Wales Department of Health. The author has contributed to research in topics: Genetic factors in colorectal cancer & Colorectal Cancer Screening and Detection & Cancer Genomics and Diagnostics. The author has an h-index of 12, co-authored 24 publications.
Papers by this author
worksFrequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients
2005 · Hereditary Cancer in Clinical Practice · 13 citations
https://doi.org/10.1186/1897-4287-3-2-65
The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria
2006 · Hereditary Cancer in Clinical Practice · 9 citations
https://doi.org/10.1186/1897-4287-4-2-94
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
2016 · Hereditary Cancer in Clinical Practice · 6 citations
https://doi.org/10.1186/s13053-015-0045-y
CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC
2021 · Hereditary Cancer in Clinical Practice · 3 citations
https://doi.org/10.1186/s13053-021-00183-0
Deletion Mutations in an Australian Series of HNPCC Patients
2005 · Hereditary Cancer in Clinical Practice · 2 citations
https://doi.org/10.1186/1897-4287-3-1-43
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