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Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden.

Wendt C, Lindblom A, Arver B, von Wachenfeldt A, Margolin S - Hered Cancer Clin Pract (2015)

Bottom Line: The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome.The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made.A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values.

View Article: PubMed Central - PubMed

Affiliation: Department of Oncology-Pathology, Karolinska Institutet Solna, S-17177 Stockholm, Sweden ; Department of Oncology, Karolinska University Hospital Solna, S-17177 Stockholm, Sweden.

ABSTRACT

Background: Approximately 30 % of all breast cancer is at least partly attributed to hereditary factors. Familial breast cancer is often inherited in the context of cancer syndromes. The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome. The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made. The aim of this study was to compare cancer proportions in familial non-BRCA hereditary breast cancer compared to the general population in search of putative new breast cancer syndromes.

Methods: Pedigrees from 334 non-BRCA hereditary breast cancer families in the county of Stockholm, Sweden, were investigated and the distribution of cancer diagnoses other than breast cancer was compared with the distribution of cancer diagnoses in the general Swedish population in two reference years, 1970 and 2010. A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values.

Results: We found that endometrial cancer was overrepresented in the non-BRCA families with a 6.36 % proportion (CI 4.67-8.2) compared to the proportion in the general population in the reference years 1970 (3.07 %) and 2010 (2.64 %). Moreover tumours of the ovary, liver, pancreas and prostate were overrepresented.

Conclusion: In conclusion, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families. Our result supports previous inconsistent reports of a putative breast and endometrial cancer syndrome. An association has been suggested in studies of families with several cases of breast cancer in close relatives or bilateral breast cancer. To clarify this issue we suggest further studies on a breast and endometrial cancer syndrome in cohorts with a strong pattern of hereditary breast cancer. Identifying new breast cancer syndromes is of importance to improve genetic counselling for women at risk and a first step towards detection of new susceptibility genes.

No MeSH data available.


Related in: MedlinePlus

Flowchart illustrating inclusion and exclusion of study families
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Fig3: Flowchart illustrating inclusion and exclusion of study families

Mentions: Pedigrees from 334 non-BRCA families remained for inclusion in this study after excluding BRCA positive families, families who did not fulfill inclusion criteria and families with no pedigree available (Fig. 3). Within these families we found 707 cases of cancer other than breast cancer, equaling 2.2 cases per family. 54 % of the cancer diagnoses were verified histologically from the Swedish cancer registry, medical records or death certificates. In 33 families, diagnoses were registered from both maternal and paternal branches (Fig. 2).Fig. 3


Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden.

Wendt C, Lindblom A, Arver B, von Wachenfeldt A, Margolin S - Hered Cancer Clin Pract (2015)

Flowchart illustrating inclusion and exclusion of study families
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4469256&req=5

Fig3: Flowchart illustrating inclusion and exclusion of study families
Mentions: Pedigrees from 334 non-BRCA families remained for inclusion in this study after excluding BRCA positive families, families who did not fulfill inclusion criteria and families with no pedigree available (Fig. 3). Within these families we found 707 cases of cancer other than breast cancer, equaling 2.2 cases per family. 54 % of the cancer diagnoses were verified histologically from the Swedish cancer registry, medical records or death certificates. In 33 families, diagnoses were registered from both maternal and paternal branches (Fig. 2).Fig. 3

Bottom Line: The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome.The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made.A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values.

View Article: PubMed Central - PubMed

Affiliation: Department of Oncology-Pathology, Karolinska Institutet Solna, S-17177 Stockholm, Sweden ; Department of Oncology, Karolinska University Hospital Solna, S-17177 Stockholm, Sweden.

ABSTRACT

Background: Approximately 30 % of all breast cancer is at least partly attributed to hereditary factors. Familial breast cancer is often inherited in the context of cancer syndromes. The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome. The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made. The aim of this study was to compare cancer proportions in familial non-BRCA hereditary breast cancer compared to the general population in search of putative new breast cancer syndromes.

Methods: Pedigrees from 334 non-BRCA hereditary breast cancer families in the county of Stockholm, Sweden, were investigated and the distribution of cancer diagnoses other than breast cancer was compared with the distribution of cancer diagnoses in the general Swedish population in two reference years, 1970 and 2010. A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values.

Results: We found that endometrial cancer was overrepresented in the non-BRCA families with a 6.36 % proportion (CI 4.67-8.2) compared to the proportion in the general population in the reference years 1970 (3.07 %) and 2010 (2.64 %). Moreover tumours of the ovary, liver, pancreas and prostate were overrepresented.

Conclusion: In conclusion, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families. Our result supports previous inconsistent reports of a putative breast and endometrial cancer syndrome. An association has been suggested in studies of families with several cases of breast cancer in close relatives or bilateral breast cancer. To clarify this issue we suggest further studies on a breast and endometrial cancer syndrome in cohorts with a strong pattern of hereditary breast cancer. Identifying new breast cancer syndromes is of importance to improve genetic counselling for women at risk and a first step towards detection of new susceptibility genes.

No MeSH data available.


Related in: MedlinePlus