id:"swepub:oai:lup.lub.lu.se:3e3f3e3c-2a4d-49b8-ba57-de264ada08a9"
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- Hemminki, KariGerman Cancer Research Centre,Charles University in Prague (author)
Are population level familial risks and germline genetics meeting each other?
- Article/chapterEnglish2023
Publisher, publication year, extent ...
- 2023-03-08
- Springer Science and Business Media LLC,2023
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- LIBRIS-ID:oai:lup.lub.lu.se:3e3f3e3c-2a4d-49b8-ba57-de264ada08a9
- https://lup.lub.lu.se/record/3e3f3e3c-2a4d-49b8-ba57-de264ada08a9URI
- https://doi.org/10.1186/s13053-023-00247-3DOI
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- Language:English
- Summary in:English
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- SwePubSwePub
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- Large amounts of germline sequencing data have recently become available and we sought to compare these results with population-based family history data. Family studies are able to describe aggregation of any defined cancers in families. The Swedish Family-Cancer Database is the largest of its kind in the world, covering the Swedish families through nearly a century with all cancers in family members since the start of national cancer registration in 1958. The database allows estimation of familial risks, ages of cancer onset and the proportion of familial cancer in different family constellations. Here, we review the proportion of familial cancer for all common cancers and specify them based on the number of affected individuals. With the exception of a few cancers, age of onset of familial cancer is not different from all cancers combined. The highest proportions of familial cancer were found for prostate (26.4%), breast (17.5%) and colorectal (15.7%) cancers, but the proportions of high-risk families with multiple affected individuals were only 2.8%, 1% and 0.9%, respectively. A large sequencing study on female breast cancer found that BRCA1 and BRCA2 mutations could account for 2% of the cases (subtracting the proportions in healthy individuals) and that all germline mutations accounted for 5.6% of the cases. Early age of onset was a distinct feature of only BRCA mutations. In heritable colorectal cancer, Lynch syndrome genes dominate. Large studies on penetrance in Lynch syndrome have shown an approximately linear increase in risk from 40–50 years up to age 80 years. Interesting novel data revealed a strong modification of familial risk by unknown factors. High-risk germline genetics of prostate cancer is characterized by BRCA and other DNA repair genes. HOXB13 encodes a transcription factor which contributes to germline risk of prostate cancer. A strong interaction was shown with a polymorphism in the CIP2A gene. The emerging germline landscape of common cancers can be reasonably accommodated by family data on these cancers as to high-risk proportions and age of onset.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
- Familial proportion
- Familial risk
- Family-Cancer Database
- High-risk families
- Nation-wide study
Added entries (persons, corporate bodies, meetings, titles ...)
- Li, XinjunLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Family Medicine and Clinical Epidemiology,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-xul (author)
- Försti, AstaGerman Cancer Research Centre,Hopp Children’s Cancer Center Heidelberg (KiTZ)(Swepub:lu)med-asf (author)
- Eng, CharisCleveland Clinic Foundation (author)
- German Cancer Research CentreCharles University in Prague (creator_code:org_t)
Related titles
- In:Hereditary Cancer in Clinical Practice: Springer Science and Business Media LLC21:11731-23021897-4287
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