F Lalloo

Author PubWeight™ 88.12‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003 18.67
2 The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer 2008 3.87
3 A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 2004 3.10
4 Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet 2006 2.68
5 Uptake of screening and prevention in women at very high risk of breast cancer. Lancet 2001 2.45
6 Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet 2003 2.24
7 Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010 2.05
8 Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin Genet 2009 2.05
9 Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005 1.91
10 Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet 2008 1.90
11 Familial breast cancer: an investigation into the outcome of treatment for early stage disease. Fam Cancer 2001 1.62
12 Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet 1998 1.61
13 The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet 1991 1.51
14 Screening by mammography, women with a family history of breast cancer. Eur J Cancer 1998 1.44
15 Colonoscopy screening compliance and outcomes in patients with Lynch syndrome. Colorectal Dis 2015 1.40
16 Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012 1.39
17 Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet 2005 1.29
18 Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer. J Med Genet 2001 1.28
19 Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer. J Med Genet 2011 1.23
20 Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 2008 1.20
21 Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2009 1.18
22 Risk reducing mastectomy: outcomes in 10 European centres. J Med Genet 2008 1.12
23 Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer 2012 1.12
24 Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Dis Markers 1999 1.05
25 Clinical follow-up after bilateral risk reducing ('prophylactic') mastectomy: mental health and body image outcomes. Psychooncology 2001 1.04
26 Risk assessment and management of high risk familial breast cancer. J Med Genet 2002 1.01
27 Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group. Dis Markers 1999 0.94
28 Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. J Med Genet 2002 0.93
29 Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg 2013 0.92
30 Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status. Br J Cancer 2010 0.92
31 Menopausal symptoms and bone health in women undertaking risk reducing bilateral salpingo-oophorectomy: significant bone health issues in those not taking HRT. Br J Cancer 2011 0.92
32 The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut 2010 0.91
33 Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme. Fam Cancer 2014 0.91
34 The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Br J Cancer 2009 0.90
35 Risk of breast cancer in male BRCA2 carriers. J Med Genet 2010 0.90
36 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. J Med Genet 2003 0.90
37 Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families. J Med Genet 2004 0.90
38 Molecular stool screening for colorectal cancer. Br J Surg 2004 0.90
39 The spectrum of urological malignancy in Lynch syndrome. Fam Cancer 2013 0.87
40 Surgical decisions made by 158 women with hereditary breast cancer aged <50 years. Eur J Surg Oncol 2005 0.86
41 Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families. Clin Genet 2008 0.86
42 Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. J Med Genet 2004 0.86
43 Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. Br J Surg 2007 0.85
44 Genotype-phenotype correlation in colorectal polyposis. Clin Genet 2011 0.84
45 Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history. J Med Genet 2000 0.84
46 RASSF1A polymorphism in familial breast cancer. Fam Cancer 2010 0.84
47 Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women. Br J Cancer 2011 0.83
48 High detection rate for BRCA2 mutations in male breast cancer families from North West England. Fam Cancer 2001 0.82
49 Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer 2009 0.82
50 Non-random transmission of mutant alleles to female offspring in BRCA carriers. J Med Genet 2005 0.82
51 Breast cancer susceptibility variants alter risk in familial ovarian cancer. Fam Cancer 2010 0.80
52 Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Br J Cancer 2011 0.79
53 Keratoconus associated with chromosome 13 ring abnormality. Br J Ophthalmol 2000 0.79
54 Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. Clin Genet 2006 0.79
55 Metachronous colorectal cancer risk in patients with a moderate family history. Colorectal Dis 2013 0.79
56 Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey. Clin Genet 2015 0.78
57 Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK. Clin Genet 2012 0.78
58 The impact of new screening protocol on individuals at increased risk of colorectal cancer. Colorectal Dis 2007 0.77
59 Utilisation of prophylactic mastectomy in 10 European centres. Dis Markers 1999 0.77
60 Hyperplastic polyps are innocuous lesions in hereditary nonpolyposis colorectal cancers. Int J Surg Oncol 2011 0.76
61 Management of hereditary breast cancer. European Familial Breast Cancer Collaborative Group. Dis Markers 1999 0.75