Prevalence and penetrance of major genes and polygenes for colorectal cancer

AK Win, MA Jenkins, JG Dowty, AC Antoniou… - … Biomarkers & Prevention, 2017 - AACR
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

X Yang, H Song, G Leslie, C Engel… - JNCI: Journal of the …, 2020 - academic.oup.com
Background The purpose of this study was to estimate precise age-specific tubo-ovarian
carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C …

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

AC Antoniou, PDP Pharoah, G McMullan… - British journal of …, 2002 - nature.com
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic
counselling purposes, it is important to allow for the fact that other breast cancer …

[HTML][HTML] How can polygenic inheritance be used in population screening for common diseases?

MJ Khoury, ACJW Janssens, DF Ransohoff - Genetics in Medicine, 2013 - Elsevier
Advances in genomics have near-term impact on diagnosis and management of monogenic
disorders. For common complex diseases, the use of genomic information from multiple loci …

Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population‐based study

AC Antoniou, PDP Pharoah, G McMullan… - … Official Publication of …, 2001 - Wiley Online Library
We used data from a population based series of breast cancer patients to investigate the
genetic models that can best explain familial breast cancer not due to the BRCA1 and …

Polygenic inheritance of breast cancer: implications for design of association studies

AC Antoniou, DF Easton - Genetic Epidemiology: The Official …, 2003 - Wiley Online Library
Susceptibility to breast cancer is likely to be the result of susceptibility alleles in many
different genes. In particular, one segregation analysis of breast cancer suggested that …

[HTML][HTML] Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk prediction

S Li, RJ MacInnis, A Lee, T Nguyen-Dumont… - The American Journal of …, 2022 - cell.com
Rare pathogenic variants in known breast cancer-susceptibility genes and known common
susceptibility variants do not fully explain the familial aggregation of breast cancer. To …

Incorporating tumour pathology information into breast cancer risk prediction algorithms

N Mavaddat, TR Rebbeck, SR Lakhani… - Breast Cancer …, 2010 - Springer
Introduction Mutations in BRCA1 and BRCA2 confer high risks of breast cancer and ovarian
cancer. The risk prediction algorithm BOADICEA (Breast and Ovarian Analysis of Disease …

A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects

S Jervis, H Song, A Lee, E Dicks… - Journal of Medical …, 2015 - jmg.bmj.com
Background Although BRCA1 and BRCA2 mutations account for only∼ 27% of the familial
aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that …

A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact

RJ MacInnis, AC Antoniou, RA Eeles… - Genetic …, 2011 - Wiley Online Library
Genome wide association studies have identified several single nucleotide polymorphisms
(SNPs) that are independently associated with small increments in risk of prostate cancer …