Hereditary lobular breast cancer

Hereditary Lobular Breast Cancer (HLBC) is a form of breast cancer that is passed down through families and is characterized by cancer cells forming in the lobules, which are the parts of the breast that produce milk. This type of cancer is less common than other hereditary breast cancers, such as those linked to mutations in the BRCA1 and BRCA2 genes, but it is significant due to its distinct characteristics and implications for genetic counseling and management.

Genetics

HLBC is often associated with mutations in specific genes, including CDH1, which encodes the protein E-cadherin. E-cadherin plays a crucial role in cell adhesion, and its loss is a hallmark of lobular breast cancer, leading to a distinctive pattern of cancer cell spread. Individuals with a mutation in the CDH1 gene have a higher risk of developing both lobular breast cancer and diffuse gastric cancer, a condition known as hereditary diffuse gastric cancer (HDGC) syndrome.

Diagnosis

Diagnosis of HLBC involves a combination of mammography, breast MRI, and biopsy to examine the tissue for cancer cells. Genetic testing is also recommended for individuals with a family history of breast cancer, especially if there is a known genetic mutation that increases the risk of HLBC.

Treatment

Treatment options for HLBC typically include surgery (such as mastectomy or lumpectomy), chemotherapy, radiation therapy, and hormone therapy. The choice of treatment depends on the stage of the cancer, the patient's overall health, and whether the cancer is sensitive to hormones.

Prevention and Screening

For individuals with a known genetic predisposition to HLBC, preventive measures may include prophylactic surgeries, such as mastectomy and oophorectomy (removal of the ovaries), to reduce the risk of cancer. Regular screening through mammography and breast MRI is also recommended to detect cancer at an early stage.

Prognosis

The prognosis for HLBC varies depending on the stage at diagnosis and the specific characteristics of the cancer. In general, early detection and treatment improve the prognosis for individuals with HLBC.

Research

Ongoing research is focused on understanding the genetic and molecular mechanisms underlying HLBC, developing targeted therapies, and improving screening and prevention strategies for individuals at high risk.