Other Causes of Hereditary Breast Cancer

	Tweet

It is important to bear in mind that not all families with a pedigree suggestive of hereditary breast cancer are linked to BRCA1 or BRCA2. Alterations in other genes, such as P53 (Li-Fraumeni syndrome) and PTEN (Cowden’s syndrome) may account for a proportion of such families (Table 11.2). These additional syndromes are quite rare. Most families with an apparent predisposition to breast cancer that cannot be attributed to either BRCA1 or BRCA2 remain unexplained.

The Li-Fraumeni syndrome (LFS) is characterized by the occurrence of multiple different tumor types within a kindred, often arising at very early ages. The syndrome is most commonly attributable to germline mutations n P53. Soft-tissue sarcoma and osteosarcoma, adrenocortical carcinoma, brain tumors and leukemias are the tumors most often associated with LFS, but early-onset breast cancer is actually one of the most common component tumors.

Cowden’s syndrome (also known as Cowden disease) is associated in at east some families with germline mutations of PTEN. The original syndrome was characterized by the presence of multiple hamartomatous lesions, papillomas of the lip and tongue and acral keratoses. An increased risk of early-onset breast cancer (and also thyroid cancer) has been reported to be associated with the syndrome.

Several other conditions have been reported to be associated with an ncreased risk of breast cancer. These include the Muir-Torre syndrome and the Peutz-Jegher syndrome, both of which are more commonly associated with gastrointestinal tumors. Rare associations have been described with a constitutional translocation of chromosomes 11 and 22, as well as with alterations in the androgen-receptor gene. Finally, there have been reports that the carrier state for ataxia telangiectasia, an autosomal recessive neuroogic disorder caused by mutations in the gene ATM, is associated with an ncreased breast cancer risk.

Mark E. Robson
Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 2003

References

RELATED STORIES:
Rare Benign Disorders of the Breast   Using Breast Density to Predict Breast Cancer Risk   Fibromatosis of the breast   Surgery for Invasive Breast Cancer   Adjuvant Therapy of Breast Cancer   Complications of Axillary Dissection   Abnormal Vaginal Bleeding and breast cancer   Screening for Breast Cancer - Introduction   Breast Cancer Treatment - Surgery   Gene Therapy for Breast Cancer   Surgical Approach   Hereditary Breast Cancer and the Identification of BRCA1 and BRCA2   Assessment of Sexual Function in Breast Cancer Survivors   Assessment of Risk and Choice of Adjuvant Therapy   Urinary Incontinence in patients with breast cancer   Periductal Mastitis   Treatment-related factors   Theory and principles of cancer screening   Hamartoma   Breast cancer risk is increased in women with prenatal exposure to diethylstilbestrol   Radiation Therapy for Axillary Control   Screening Mammography

Comments

[ + Post Your Own ]

Now you're in the public comment zone. What follows is not Armenian Medical Network's stuff; it comes from other people and we don't vouch for it. A reminder: By using this Web site you agree to accept our Terms of Service. Click here to read the Rules of Engagement.

There are no comments for this entry yet. [ + Comment here + ]