Screening In Hereditary Breast And Ovarian Cancer Syndrome

Although overall population screening reduces breast cancer mortality by 25-40% in women between the ages of 50 and 70 years, no data are available on the outcomes of interventions to reduce risk in HBOC syndrome. No data are available to demonstrate that surveillance for ovarian cancer in high-risk women reduces mortality[3] because transvaginal ultrasound and CA-125 lack sensitivity and specificity. However, recommended screening in BRCA gene mutation carriers includes monthly breast

Table 4 Molecular techniques for genetic testing of BRCA1 and BRCA2


Features and limitations

DNA sequencing

Exon scanning (CSGE, SSCP, DGGE) Protein truncation testing (PTT)

Southern blot

Allele-specific oligonucleotide (ASO) Recombination-specific PCR

Highest overall level of sensitivity

May detect variants of unknown clinical significance

Intronic mutations, genomic rearrangements may be missed

Higher cost, longer turnaround time than most other techniques

Rapid, low-cost initial screening technique

Requires sequencing to confirm the exact nature of the mutation

Useful for detecting loss-of-function mutations

Change-of-function mutations may be missed

Requires sequencing to confirm the exact nature of the mutation

Can screen for large genomic rearrangements

Will not detect point mutations or small deletions and insertions

High level of sensitivity for mutation-specific testing

Rapid, low-cost technique

Only screens for specific known mutations

Can detect specific genomic rearrangements

Only screens for specific known rearrangements self-examination starting at age 18, semiannual clinical breast examination and annual mammography starting at age 25, and starting at age 30-40, semiannual transvaginal ultrasound with color Doppler, serum CA-125, and pelvic examination. Several studies have shown that in women with germline BRCA1 and BRCA2 mutations, breast cancers are likely to occur as interval cancers[4] and that standard mammography is more likely to be negative than in women at low or moderate risk.[5] Recent data suggest that magnetic resonance imaging (MRI) of the breast may be much more sensitive than mammography for detecting

cancer in mutation carriers.

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