Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

Noralane M. Lindor; Tom C. Smyrk; Sheila Buehler; Shanaka R. Gunawardena; Brittany C. Thomas; Paul Limburg; Salman Kirmani; Stephen N. Thibodeau

doi:10.1007/s10689-012-9561-3

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

Noralane M. Lindor
, Tom C. Smyrk
, Sheila Buehler
, Shanaka R. Gunawardena
, Brittany C. Thomas
, Paul Limburg
, Salman Kirmani
, Stephen N. Thibodeau

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.

Original language	English (UK)
Pages (from-to)	667-669
Number of pages	3
Journal	Familial Cancer
Volume	11
Issue number	4
DOIs	https://doi.org/10.1007/s10689-012-9561-3
Publication status	Published - Dec 2012
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Double heterozygote
Familial Adenomatous Polyposis
Jejunum
Lynch Syndrome

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10.1007/s10689-012-9561-3

Cite this

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title = "Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations",

abstract = "Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.",

keywords = "Double heterozygote, Familial Adenomatous Polyposis, Jejunum, Lynch Syndrome",

author = "Lindor, \{Noralane M.\} and Smyrk, \{Tom C.\} and Sheila Buehler and Gunawardena, \{Shanaka R.\} and Thomas, \{Brittany C.\} and Paul Limburg and Salman Kirmani and Thibodeau, \{Stephen N.\}",

year = "2012",

month = dec,

doi = "10.1007/s10689-012-9561-3",

language = "English (UK)",

volume = "11",

pages = "667--669",

journal = "Familial Cancer",

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TY - JOUR

T1 - Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

AU - Lindor, Noralane M.

AU - Smyrk, Tom C.

AU - Buehler, Sheila

AU - Gunawardena, Shanaka R.

AU - Thomas, Brittany C.

AU - Limburg, Paul

AU - Kirmani, Salman

AU - Thibodeau, Stephen N.

PY - 2012/12

Y1 - 2012/12

N2 - Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.

AB - Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.

KW - Double heterozygote

KW - Familial Adenomatous Polyposis

KW - Jejunum

KW - Lynch Syndrome

UR - https://www.scopus.com/pages/publications/84870464740

U2 - 10.1007/s10689-012-9561-3

DO - 10.1007/s10689-012-9561-3

M3 - Article

C2 - 22886683

AN - SCOPUS:84870464740

SN - 1389-9600

VL - 11

SP - 667

EP - 669

JO - Familial Cancer

JF - Familial Cancer

IS - 4

ER -

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

Abstract

UN SDGs

Keywords

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