Practical aspects of genetic counseling in breast cancer: lights and shadows

Alexandre Christinat; Olivia Pagani

doi:10.1016/j.breast.2013.04.006

Practical aspects of genetic counseling in breast cancer: lights and shadows

Breast. 2013 Aug;22(4):375-82. doi: 10.1016/j.breast.2013.04.006. Epub 2013 May 11.

Authors

Alexandre Christinat¹, Olivia Pagani

Affiliation

¹ Institute of Oncology of Southern Switzerland, Bellinzona, Switzerland. alexandre.christinat@eoc.ch

PMID: 23673076
DOI: 10.1016/j.breast.2013.04.006

Abstract

In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.

Publication types

Review

MeSH terms

AMP-Activated Protein Kinase Kinases
Antigens, CD
Breast Neoplasms / genetics*
Breast Neoplasms / prevention & control
Breast Neoplasms / psychology
Breast Neoplasms, Male / genetics
Breast Neoplasms, Male / prevention & control
Breast Neoplasms, Male / psychology
Cadherins / genetics
Female
Genes, BRCA1*
Genes, BRCA2*
Genes, p53
Genetic Counseling / methods*
Genetic Predisposition to Disease / psychology
Genetic Testing / methods*
Hamartoma Syndrome, Multiple / genetics
Hamartoma Syndrome, Multiple / psychology
Hereditary Breast and Ovarian Cancer Syndrome / genetics*
Hereditary Breast and Ovarian Cancer Syndrome / psychology
Humans
Li-Fraumeni Syndrome / genetics
Li-Fraumeni Syndrome / psychology
Male
Mastectomy
Mutation
Neoplastic Syndromes, Hereditary / genetics
Neoplastic Syndromes, Hereditary / psychology
PTEN Phosphohydrolase / genetics
Peutz-Jeghers Syndrome / genetics
Peutz-Jeghers Syndrome / psychology
Protein Serine-Threonine Kinases / genetics

Substances

Antigens, CD
CDH1 protein, human
Cadherins
Protein Serine-Threonine Kinases
STK11 protein, human
AMP-Activated Protein Kinase Kinases
PTEN Phosphohydrolase