Purpose
Women with a strong family history of breast cancer (BC) or a predisposing gene mutation such as BRCA1 or BRCA2 have a cumulative lifetime risk of developing BC of 21-65% [1] with a substantial proportion of these cancer diagnosed before the age of 50 years.
Prophylactic mastectomy,
oophorectomy and chemoprevention with a selective oestrogen receptor modulator such as tamoxifen can reduce this risk but are associated with adverse events,
are ethically questionable,
and may be unacceptable options for some women.
Surveillance of high risk women...
Methods and Materials
At “Modena Cancer Centre for Hereditary Breast and Ovarium Cancer” subgroups in the population with an elevated risk of BC can be identified by performing genetic testing for BC predisposition mutations or by evaluating family history.
In particular the oncogenetic counseling was performed in accordance with an oncologist-based model of cancer genetic counseling for hereditary breast cancer.
Family histories were obtained through detail questionnaires and interviews.
Family pedigrees were traced as far backward and laterally as possible,
including a minimum of four generations and extended...
Results
118 patients were studied with one complete diagnostic round (MX,
US,
MR),
81 with two complete rounds,
56 with three rounds and 24 with four rounds.
Of the 118 patients undergoing MRI surveillance,
7 had breast cancer [Table 2].
In particular 4 breast cancer were detected with all three imaging techniques [Fig.
5,
Fig.
6,
Fig.
7]; 1 lesion was visible only at MRI [Fig.
1,
Fig.
2,
Fig.
3]and 1 only at US examination [Fig.
4].
1 breast cancer was detected in another medical...
Conclusion
Several studies have validated the role of breast MRI surveillance in women who are at high risk for breast cancer development [5,6,7].
In particular an Italian study of Sardanelli and colleagues in 17 centres sceened 278 women,
of whom 63% were tested BRCA mutation carriers or first-degree relatives of a tested carrier.
A previous history of BC was present in 44% of the women.
Eighteen cancers were detected,
giving an MRI sensitivity of 94%,
compared with sensitivities of 59% for MX,
65% for US,
and...
References
Antoniou A,
Pharoah PD,
Narod S,
et al.
Average risks of breast and ovarium 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;72:1117-30
Hamilton LJ,
Evans AJ,
Wilson AR,
et al.
Breast imaging findings in women with BRCA1- and BRCA2- associated breast carcinoma.
Clin Radiol 2004;59:895-902.
Carney P,
Miglioretti D,
Yankaskas B,
et al.
Individual and combined effects of age,
reast density,
and hormone replacement theraphy use on...