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BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer.

Boettger MB, Sergi C, Meyer P - J Carcinog (2003)

Bottom Line: Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted.CONCLUSION: To our knowledge, this is the first report of investigation for LOH for BRCA2 in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline BRCA2 mutation.Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue.

View Article: PubMed Central - HTML - PubMed

Affiliation: Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Germany. Peter.Meyer@onkogenetik.de

ABSTRACT
BACKGROUND: Germline mutations in BRCA1/2 greatly elevate risks of breast and ovarian cancers, but the role of these genes in tumourigenesis of other cancer types is still being investigated. OBJECTIVE: We report on an investigation of BRCA1/2 mutations and their loss of heterozygosity (LOH) in a patient with a strong family history of breast cancer who was diagnosed with consecutive primary cervical, ovarian and lung carcinomas. METHODS AND RESULTS: BRCA1/2 mutation screening of the proband revealed a common familial breast- and ovarian cancer-associated germline BRCA2 mutation (3034del4bp). We then performed LOH analysis for BRCA2 in lung adenocarcinoma tissue of the patient. Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted. Mutation analysis by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing revealed loss of the mutant allele in the adenocarcinoma tumour tissue. CONCLUSION: To our knowledge, this is the first report of investigation for LOH for BRCA2 in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline BRCA2 mutation. Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue.

No MeSH data available.


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Pedigree of the patient's family showing strong family history of breast cancer (BC). Filled symbols (black) represent cancer cases. Ages of disease onset are shown in years. The index patient is indicated with an arrow.
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Figure 1: Pedigree of the patient's family showing strong family history of breast cancer (BC). Filled symbols (black) represent cancer cases. Ages of disease onset are shown in years. The index patient is indicated with an arrow.

Mentions: A 46-year-old woman presented to the Department of Clinical Genetics, University of Heidelberg with multiple primary carcinomas and a family history of breast cancer. Her mother was diagnosed with bilateral breast cancer at the age of 29 years. The patient's sister was found to have breast cancer at age 49 years. Additionally, two maternal aunts had postmenopausal breast cancer (Fig. 1). Our patient had three primary tumours: cervical carcinoma at age 23, right ovarian carcinoma at age 33 and primary lung carcinoma at age 45 years. None of the tumours were treated with chemotherapy. The patient smoked one pack of cigarettes per day for ten years prior to her lung cancer diagnosis.


BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer.

Boettger MB, Sergi C, Meyer P - J Carcinog (2003)

Pedigree of the patient's family showing strong family history of breast cancer (BC). Filled symbols (black) represent cancer cases. Ages of disease onset are shown in years. The index patient is indicated with an arrow.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC239936&req=5

Figure 1: Pedigree of the patient's family showing strong family history of breast cancer (BC). Filled symbols (black) represent cancer cases. Ages of disease onset are shown in years. The index patient is indicated with an arrow.
Mentions: A 46-year-old woman presented to the Department of Clinical Genetics, University of Heidelberg with multiple primary carcinomas and a family history of breast cancer. Her mother was diagnosed with bilateral breast cancer at the age of 29 years. The patient's sister was found to have breast cancer at age 49 years. Additionally, two maternal aunts had postmenopausal breast cancer (Fig. 1). Our patient had three primary tumours: cervical carcinoma at age 23, right ovarian carcinoma at age 33 and primary lung carcinoma at age 45 years. None of the tumours were treated with chemotherapy. The patient smoked one pack of cigarettes per day for ten years prior to her lung cancer diagnosis.

Bottom Line: Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted.CONCLUSION: To our knowledge, this is the first report of investigation for LOH for BRCA2 in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline BRCA2 mutation.Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue.

View Article: PubMed Central - HTML - PubMed

Affiliation: Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Germany. Peter.Meyer@onkogenetik.de

ABSTRACT
BACKGROUND: Germline mutations in BRCA1/2 greatly elevate risks of breast and ovarian cancers, but the role of these genes in tumourigenesis of other cancer types is still being investigated. OBJECTIVE: We report on an investigation of BRCA1/2 mutations and their loss of heterozygosity (LOH) in a patient with a strong family history of breast cancer who was diagnosed with consecutive primary cervical, ovarian and lung carcinomas. METHODS AND RESULTS: BRCA1/2 mutation screening of the proband revealed a common familial breast- and ovarian cancer-associated germline BRCA2 mutation (3034del4bp). We then performed LOH analysis for BRCA2 in lung adenocarcinoma tissue of the patient. Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted. Mutation analysis by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing revealed loss of the mutant allele in the adenocarcinoma tumour tissue. CONCLUSION: To our knowledge, this is the first report of investigation for LOH for BRCA2 in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline BRCA2 mutation. Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue.

No MeSH data available.


Related in: MedlinePlus