Hereditary lobular breast cancer

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CDH1 (gene) germline mutations, and without apparent correlation with the hereditary diffuse gastric cancer syndrome. Research studies identified novel CDH1 germline variants in women with diagnosed lobular breast cancer (in invasive and/or in situ histotype) and without any family history of gastric carcinoma. Firstly, in 2018 Giovanni Corso et al. defined this syndrome as a new cancer predisposition and the Authors suggested additional clinical criteria to testing CDH1 in lobular breast cancer patients.[1]
In 2020, the International Gastric Cancer Linkage Consortium recognized officially that the hereditary lobular
gastric cancer. Other recent studies demonstrated a possible correlation between hereditary lobular breast cancer and gastric cancer risk.[3][4]

CDH1 inactivation in lobular breast cancer

In a

E-cadherin protein expression is undetectable and, consequently, it disrupts the organization of the lobule. During this pathway, abnormal cells emerge and accumulate in the lobules giving rise to lobular intraepithelial neoplasia. Finally, cancer cells disrupt the basement membrane and invade surrounding breast tissues, a stage that is classified as invasive lobular carcinoma.[5]

Criteria for genetic screening

Clinical criteria for genetic testing were suggested as following: (a) bilateral lobular breast cancer with or without family history of breast cancer, with age at onset <50 years; and (b) unilateral lobular breast cancer with family history of breast cancer, with age at onset <45 years. In this context, it has been estimated that the frequency of E-cadherin germline mutation is a rare event, affecting about 3% of the screened population. However, there are ongoing studies to assess the penetrance and the cancer risk in the hereditary lobular breast cancer syndrome.[6]

Measures for risk management

Actions to minimize the risk are prophylactic bilateral mastectomy, flat closure without reconstruction or six-month breast surveillance. In case of important family history for

Chemoprevention with low-dose Tamoxifen is also considered.[7]

References

  1. S2CID 206998695
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  2. PMID 32758476
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  3. PMID 36990610
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  4. PMID 36436516
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  5. PMID 32301282
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  6. ^ Understanding How CDH1 Germline Mutations Affect Hereditary Lobular Breast Cancer, European Institute of Oncology, 2021-02-11, archived from the original on 2021-04-23, retrieved 2021-04-23 – via clinicaltrials.gov
  7. PMID 37758801
    .
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