Familial ovarian cancer

Familial aggregation of ovarian cancer has been variably defined as occurring when (1) two first-degree relatives have ovarian cancer, or (2) the proband has ovarian cancer as well as one or more of her first- or second-degree relatives (Lynch and Lynch, 1992). Case-control studies designed to estimate the relative risk of developing ovarian cancer associated with a family history of the disease are summarized in Table 4.1. In a meta-analysis of case-control and cohort studies on family history...

Acknowledgements

This chapter is based in part on two previously published works of the authors 'Hereditary ovarian cancer' by Kasprzak et al. (1999) and 'Risk assessment and genetic testing' by Chappuis and Foulkes (2002). POC is funded by grants from the Ligue Genevoise contre le Cancer et Cancer et Solidarite Fondation, Geneva, Switzerland. WDF is a Boursier Chercheur Clinicien J2 of the Fonds de la Recherche en Sante du Quebec. Abeliovich D, Kaduri L, Lerer I, et al. (1997). The founder mutations 185delAG...

Conclusion

Patients who come from FOC families who have established ovarian cancer should be managed in the same way as those from sporadic ovarian cancer families. It may be that, with time, subtle biological differences will emerge. For the asymptomatic patient there are some very difficult decisions to make, particularly as regards genetic testing and prophylactic oophorectomy. The results of screening trials will hopefully go some way to help in making these decisions informed decisions. Advanced...

Ipsi and contralateral breast cancer recurrences

Lumpectomy followed by radiation therapy, i.e. the conservative management of breast cancer, has been accepted as a standard of care for the majority of women with early breast cancer. Long-term follow-up data have consistently shown a risk of ipsilateral breast tumour recurrence (IBTR) of 0.5-2 per year (Recht et al., 1988 Fourquet et al., 1989 Kurtz et al., 1989 Fisher et al., 1991 Veronesi et al., 1995), but breast cancer survival was not significantly affected by IBTR when compared with...

Introduction

Breast cancer is the most common cancer in women, accounting for 20 of all new cases of cancer. The lifetime risk to a woman in the UK is 1 in 12 females, with an incidence of less than 10 per 100 000 women aged under 30 years, rising to 300 per 100 000 in women aged over 85 years. Breast cancer can occur in sporadic and hereditary forms, and both forms are associated with modification to the genetic material. In the case of hereditary forms, a constitutive mutation in a specific gene...

Heterogeneity

As can be seen in Table 2.3, Ford et al. carried out heterogeneity analyses using BRCA1 2 linkage data. With the Cancer and Steroid Hormone (CASH) model being assumed for all genes, they estimated the proportions of families linked to each gene depending on the family structure and prevalence of cancer. This suggested that 52 of breast cancer in families was due to BRCA1 and 35 to BRCA2. They also estimated the proportions under the assumption that BRCA1 confers the risks estimated in previous...

Genetic testing

The decision as to whether or not genetic testing should be carried out in individual cases does not lie solely with the responsible clinician. The final decision must rest upon the informed consent of the individual. This means that patients must receive sufficient information, in a way that they can understand, concerning the proposed management, the possible alternatives and any risks. The information must be given in a non-directive manner, so that they themselves can make a balanced...

Pedigree analysis

For genetic counselling of women with a family history of breast cancer, the commonly employed model for estimating breast cancer risk is based on the Cancer and Steroid Hormone (CASH) study - a large population-based, case-control study of breast cancer comprising 4730 patients diagnosed at 20-54 years and 4688 control subjects. The Claus model is based on a genetic model of rare highly penetrant genes for susceptibility to breast cancer and therefore includes more information about family...

Low penetrancemodifier genes

Candidate genes with a function known to be consistent with a potential role in carcinogenesis have been studied to determine whether they influence the risk of breast cancer in both the general population and, more recently, in individuals carrying BRCA1 and BRCA2 gene mutations. The polymorphisms in these genes are usually common in the general population and may be associated with a small increased risk. They may only be seen to have an effect in carriers of other known gene mutations or in...

Familial Breast Ovarian Cancer

Hodgson and Neva E. Haites more information - www.cambridge.org 9780521803731 This book surveys the profound and far-reaching ramifications that have arisen from the very significant advances in our understanding of the genetic basis of familial breast and ovarian cancer. Written by international experts from Europe and North America, it provides the busy clinician with a contemporary and wide-ranging guide to the latest developments in the diagnosis, genetics,...