TABLE 17

Genes associated with a moderate or high lifetime risk of breast cancer and effects on life expectancy

Disease geneLocationTumoursTumour ageLifetime risk (%)Birth incidence of mutationsLife expectancy
CHEK222qBreast cancer> 25 years201 in 200?normal
ATM11qBreast cancer> 25 years201 in 200?normal
BRIPBreast cancer> 25 years201 in 1000?normal
PALB2Breast cancer> 25 years20–40< 1 in 1000?normal
NF117qNeurofibromaFirst year1001 in 260054–72 years
GliomaFirst year12
Breast cancer> 25 years17
PTENCowden10qBreast cancer> 25 years601 in 200,000–250,000Reduced in women
Thyroid30 years10
PJS19pGI malignancy20 years601 in 25,00058 years
Breast> 25 years40
LFS/TP5317pSarcomaFirst year801 in 30,000Severely reduced
Breast cancer (women)> 16 years95
GliomasFirst year20
HDGC/CDH116qGastric> 16 years70–80Very rareReduced
Breast (women)> 35 years20–40
BRCA213qBreast/ovary (women)> 18 years40–901 in 80068 years
Prostate (men)> 30 years20
Pancreas> 30 years5
BRCA117qBreast (women)> 18 years60–901 in 100062 years
Ovary> 20 years40–60

GI, gastrointestinal; NF1, neurofibromatosis type 1; PJS, Peutz–Jeghers syndrome.

Reused with permission from Evans DG. Genetic Predisposition and Breast Screening. In Benson JR, Gui G, Tuttle TM, editors. Early Breast Cancer: From Screening to Multidisciplinary Management. 3rd edn. CRC Press; 2013. pp. 17–27.108

From: Chapter 3, Project 2: assessment of predictive value of new genetic variants

Cover of Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study
Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study.
Programme Grants for Applied Research, No. 4.11.
Evans DG, Astley S, Stavrinos P, et al.
Southampton (UK): NIHR Journals Library; 2016 Aug.
Copyright © Queen’s Printer and Controller of HMSO 2016. This work was produced by Evans et al. under the terms of a commissioning contract issued by the Secretary of State for Health. This issue may be freely reproduced for the purposes of private research and study and extracts (or indeed, the full report) may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising. Applications for commercial reproduction should be addressed to: NIHR Journals Library, National Institute for Health Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK.

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