Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

Abstract

The ability to define women as being at hereditary risk for breast and ovarian cancer facilitates the use of specialized surveillance and prevention strategies. Genetic testing, which plays a role in defining risk, requires careful pre- and post-test counseling to discuss the limitations of testing itself and available management strategies.

The development of interval breast malignancies in patients with BRCA mutations

“…For this reason, surveillance recommendations are necessarily based on expert opinion, rather than on prospective data. 8 Although there currently is no consensus regarding the frequency of breast imaging screening for asymptomatic BRCA1 or BRCA2 mutation carriers, most guidelines recommend breast imaging beginning at an age 5-10 years younger than the youngest age of diagnosis of an affected relative. 9,10 The conventional 12-month interval between breast imaging scans, however, typically is not shortened for BRCA mutation carriers.…”

Second malignancies after breast cancer: the impact of different treatment modalities

“…The overall survival rate of patients with early advanced breast cancer (BC) has increased over the years largely because adjuvant therapy, whether chemotherapy, radiotherapy or hormone therapy, has helped prevent local and distant failures (Fox, 1979;Jones and Raghavan, 1993; EBCTCG, 2005). Second malignancies that occur in long-term survivors may be due to sporadic cancers that would have occurred anyway, environmental or genetic factors (Klijn et al, 1997;Schrag et al, 1997;Turner et al, 1999;Meijers-Heijboer et al, 2000;Pierce et al, 2000Pierce et al, , 2003 StoppaLyonnet et al, 2000;Galper et al, 2002;Kauff et al, 2002;Pierce, 2002;Robson, 2002;Seynaeve et al, 2004; Kirova et al, 2005aKirova et al, , b, 2006aLaki et al, 2007), or BC treatment (Neugut et al, 1993;Inskip et al, 1994;Ahsan and Neugut, 1998;Karlsson et al, 1998;Kirova et al, 1998 Kirova et al, , 2005aKirova et al, , b, 2007Obedian et al, 2000;Rubino et al, 2000;Scholl et al, 2001;Shousha et al 2001;Yap et al, 2002 Yap et al, , 2005Deutsch et al, 2003;Zablotska and Neugut, 2003;Zablotska et al, 2005;Mellemkjaer et al, 2006) The aim of this study was to estimate the risk of a second malignancy after adjuvant treatment for BC in a homogeneous cohort of patients from a single institution. The observed incidence of second malignancies in these BC patients was compared with the expected age-adjusted number of new cases in the general population of French women as given by data from five regional registries (Remontet et al, 2003).…”

Risk Factors for Ovarian Cancer: Results from a Hospital-Based Case-Control Study

“…32 Lu bin et al, Da jan et al, Neg ri et al, Elit et al, Li e de et al and Rob son fo und that wo men with a fa mily his tory of ova ri an or bre ast can cer had the hig hest ova ri an can cer risk. 6,[15][16][17][18][19] In an ad di ti o nal study, Tung et al re por ted an even stron ger in cre a se in the risk of ova ri an can cer as so ci a ted with po si ti ve fa mily his tory for bre ast, ova ri an or co lo rec tal cancers. 33 Anot her study, Greg gi et al al so re por ted that wo men with a fa mily his tory of bre ast, ova rian or en do met ri al can cer had ma jor risk fac tors for ova ri an can cer.…”

“…Be si des, so me epi de mio lo gi cal stu di es re por ted that po si ti ve fa mily history of can cer has the hig hest in ova ri an can cer but anot her epi de mi o lo gi cal study is not as so ci a ted with an in cre a sed risk of ova ri an can cer. 6,[15][16][17][18][19][20] Early de tec ti on is much im por tant in the ovari an can cer, which is a se ri o us wo man he alth problem in the world. The early di ag no sis of the ill ness con tri bu tes to re co very, slo ws down the de ve lopment of the ill ness, pre ven ting the comp li ca ti ons, res tric ts the di sa bi li ti es and im pro ves the li fe qu ality and stan dard.…”