Editing Penetrance (section)

=== Gender-related penetrance ===
[[File:BRCA1 and BRCA2 mutations and absolute cancer risk.jpg|thumb|Illustration of BRCA1 and BRCA2 mutations and cancer risk.<ref>{{Citation |last1=Petrucelli |first1=Nancie |title=BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=http://www.ncbi.nlm.nih.gov/books/NBK1247/ |access-date=15 February 2024 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=20301425 |last2=Daly |first2=Mary B. |last3=Pal |first3=Tuya |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A. |archive-date=8 March 2021 |archive-url=https://web.archive.org/web/20210308001246/https://www.ncbi.nlm.nih.gov/books/NBK1247/ |url-status=live }}</ref>]]
For some mutations, the phenotype is more frequently present in one [[sex]] and in rare cases mutations appear completely non-penetrant in a particular gender. This is called gender-related penetrance or sex-dependent penetrance and may be the result of allelic variation, disorders in which the expression of the disease is limited to organs only found in one sex such as testis or ovaries, or sex steroid-responsive genes.<ref name=":0" /><ref name=":1" /><ref name=":4">{{Citation |last1=Koellner |first1=Christine M. |title=Chapter 5 - Basic Concepts in Human Molecular Genetics |date=1 January 2018 |work=Molecular Pathology (Second Edition) |pages=99–120 |editor-last=Coleman |editor-first=William B. |url=https://www.sciencedirect.com/science/article/pii/B9780128027615000055 |access-date=13 February 2024 |publisher=Academic Press |doi=10.1016/b978-0-12-802761-5.00005-5 |isbn=978-0-12-802761-5 |last2=Mensink |first2=Kara A. |last3=Highsmith |first3=W. Edward |editor2-last=Tsongalis |editor2-first=Gregory J. |url-access=subscription }}</ref> Breast cancer caused by the BRCA2 mutation is an example of a disease with gender-related penetrance. The penetrance is determined to be much higher in women than men. By age 70, around 86% of females in contrast to 6% of males with the same mutation is estimated to develop breast cancer.<ref name=":4" /> 

In cases where clinical symptoms or the phenotype related to a genetic mutation are present only in one sex, the disorder is said to be sex-limited. [[Familial male-limited precocious puberty]] (FMPP) caused by a mutation in the LHCGR gene, is an example of a genotype only penetrant in males. Meaning that males with this particular genotype exhibit symptoms of the disease whilst the same genotype is nonpenetrant in females.<ref name=":1" /><ref name=":4" /><ref>{{Cite journal |last1=Gurnurkar |first1=Shilpa |last2=DiLillo |first2=Emily |last3=Carakushansky |first3=Mauri |date=1 June 2021 |title=A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |url=http://cms.galenos.com.tr/Uploads/Article_39964/JCRPE-13-239-En.pdf |journal=Journal of Clinical Research in Pediatric Endocrinology |volume=13 |issue=2 |pages=239–244 |doi=10.4274/jcrpe.galenos.2020.2020.0067 |issn=1308-5727 |pmc=8186329 |pmid=32757547 |access-date=15 February 2024 |archive-date=27 February 2024 |archive-url=https://web.archive.org/web/20240227080346/https://cms.galenos.com.tr/Uploads/Article_39964/JCRPE-13-239-En.pdf |url-status=live }}</ref>